Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P F F D L K P V S V D L A L G E S G T F K C H V T G T A P I K I T W A K D N R E I R P G G N Y K M T L V E N T A T L T V L K V G K G D A G Q Y T C Y A S N I A G K D S C S A Q L G V Q E P P R F I K K L E P S R I V K Q D E F T R Y E C K I G G S P E I K V L W Y K D E T E I Q E S S K F R M S F V D S V A V L E M H N L S V E D S G D Y T C E A H N A A G S A S S S T S L K V K
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P R F I K K L E P S R I V K Q D E F T R Y E C K I G G S P E I K V L W Y K D E T E I Q E S S K F R M S F V D S V A V L E M H N L S V E D S G D Y T C E A H N A A G S A S S S T S L K V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8549 1 P/H 1 rs774351461 0.1192 None gnomAD-2.1.1 5.34E-05
8549 1 P/H 1 rs774351461 0.1192 None gnomAD-3.1.2 2.63E-05
8549 1 P/H 1 rs774351461 0.1192 None gnomAD-4.0.0 8.6227E-05
8549 1 P/L 1 None 0.1192 None gnomAD-4.0.0 1.40334E-06
8549 1 P/S 1 rs536374359 0.1192 None gnomAD-2.1.1 3.66E-05
8549 1 P/S 1 rs536374359 0.1192 None gnomAD-3.1.2 2.63E-05
8549 1 P/S 1 rs536374359 0.1192 None 1000 genomes 1.99681E-04
8549 1 P/S 1 rs536374359 0.1192 None gnomAD-4.0.0 2.34722E-05
8550 2 R/G 2 rs371161599 0.4082 None gnomAD-2.1.1 1.55E-05
8550 2 R/G 2 rs371161599 0.4082 None gnomAD-4.0.0 5.61101E-06
8550 2 R/M 2 None 0.4082 None gnomAD-4.0.0 7.01471E-07
8550 2 R/S 2 rs2077385819 0.4082 None gnomAD-4.0.0 8.40998E-06
8552 4 I/T 4 rs940884256 0.4217 None gnomAD-2.1.1 5E-06
8552 4 I/T 4 rs940884256 0.4217 None gnomAD-3.1.2 1.97E-05
8552 4 I/T 4 rs940884256 0.4217 None gnomAD-4.0.0 5.05384E-06
8554 6 K/E 7 rs201945791 0.6234 None gnomAD-2.1.1 1.15357E-04
8554 6 K/E 7 rs201945791 0.6234 None gnomAD-3.1.2 1.11732E-04
8554 6 K/E 7 rs201945791 0.6234 None gnomAD-4.0.0 8.32718E-05
8554 6 K/N 7 rs568546539 0.6234 None gnomAD-2.1.1 4.92E-05
8554 6 K/N 7 rs568546539 0.6234 None gnomAD-3.1.2 1.97E-05
8554 6 K/N 7 rs568546539 0.6234 None 1000 genomes 3.99361E-04
8554 6 K/N 7 rs568546539 0.6234 None gnomAD-4.0.0 1.26109E-05
8555 7 L/Q 8 None 0.1661 None gnomAD-4.0.0 6.96823E-07
8556 8 E/D 9 None 0.3736 None gnomAD-4.0.0 3.31776E-06
8557 9 P/T 11 None 0.7071 None gnomAD-4.0.0 1.65379E-06
8559 11 R/K 14 rs745818225 0.2053 None gnomAD-2.1.1 4.72E-06
8559 11 R/K 14 rs745818225 0.2053 None gnomAD-4.0.0 2.08309E-06
8560 12 I/T 16 rs727504204 0.5679 None gnomAD-4.0.0 1.38592E-06
8561 13 V/L 17 None 0.1657 None gnomAD-4.0.0 6.92609E-07
8561 13 V/M 17 None 0.1657 None gnomAD-4.0.0 6.23348E-06
8563 15 Q/E 23 None 0.4510 None gnomAD-4.0.0 2.76474E-06
8564 16 D/G 24 rs770623711 0.6029 None gnomAD-2.1.1 8.91E-06
8564 16 D/G 24 rs770623711 0.6029 None gnomAD-4.0.0 2.07109E-06
8567 19 T/A 28 rs777832511 0.1284 None gnomAD-2.1.1 4.34E-06
8567 19 T/A 28 rs777832511 0.1284 None gnomAD-3.1.2 1.97E-05
8567 19 T/A 28 rs777832511 0.1284 None gnomAD-4.0.0 6.2339E-06
8567 19 T/K 28 rs867794054 0.1284 None gnomAD-4.0.0 1.61538E-06
8567 19 T/P 28 rs777832511 0.1284 None gnomAD-2.1.1 4.34E-06
8567 19 T/P 28 rs777832511 0.1284 None gnomAD-3.1.2 6.57E-06
8567 19 T/P 28 rs777832511 0.1284 None gnomAD-4.0.0 6.57263E-06
8568 20 R/M 29 None 0.2736 None gnomAD-4.0.0 1.61428E-06
8568 20 R/S 29 None 0.2736 None gnomAD-4.0.0 6.88015E-07
8570 22 E/K 31 rs552462622 0.3126 None gnomAD-2.1.1 4.12E-05
8570 22 E/K 31 rs552462622 0.3126 None gnomAD-3.1.2 7.23E-05
8570 22 E/K 31 rs552462622 0.3126 None 1000 genomes 1.99681E-04
8570 22 E/K 31 rs552462622 0.3126 None gnomAD-4.0.0 1.44985E-04
8573 25 I/L 35 rs142609645 0.0992 None gnomAD-2.1.1 1.1E-05
8573 25 I/L 35 rs142609645 0.0992 None gnomAD-3.1.2 7.23E-05
8573 25 I/L 35 rs142609645 0.0992 None 1000 genomes 1.99681E-04
8573 25 I/L 35 rs142609645 0.0992 None gnomAD-4.0.0 8.07615E-06
8574 26 G/D 38 None 0.2145 None gnomAD-4.0.0 6.85839E-07
8574 26 G/R 38 None 0.2145 None gnomAD-4.0.0 6.85979E-07
8574 26 G/S 38 rs752013701 0.2145 None gnomAD-2.1.1 1.83E-05
8574 26 G/S 38 rs752013701 0.2145 None gnomAD-3.1.2 3.29E-05
8574 26 G/S 38 rs752013701 0.2145 None gnomAD-4.0.0 5.59085E-06
8575 27 G/E 40 None 0.2962 None gnomAD-4.0.0 1.59856E-06
8575 27 G/R 40 rs397517517 0.2962 None gnomAD-2.1.1 8.25E-06
8575 27 G/R 40 rs397517517 0.2962 None gnomAD-3.1.2 1.97E-05
8575 27 G/R 40 rs397517517 0.2962 None gnomAD-4.0.0 9.93517E-06
8576 28 S/F 41 rs376095355 0.2579 None gnomAD-2.1.1 8.2E-06
8576 28 S/F 41 rs376095355 0.2579 None gnomAD-4.0.0 1.16503E-05
8576 28 S/P 41 rs1176708240 0.2579 None gnomAD-2.1.1 4.11E-06
8576 28 S/P 41 rs1176708240 0.2579 None gnomAD-3.1.2 6.58E-06
8576 28 S/P 41 rs1176708240 0.2579 None gnomAD-4.0.0 6.42695E-06
8577 29 P/T 42 None 0.4423 None gnomAD-4.0.0 1.59731E-06
8579 31 I/F 44 None 0.1529 None gnomAD-4.0.0 6.84841E-07
8579 31 I/V 44 None 0.1529 None gnomAD-4.0.0 1.36968E-06
8580 32 K/R 45 None 0.6635 None gnomAD-4.0.0 1.59385E-06
8581 33 V/F 46 None 0.2225 None gnomAD-4.0.0 6.84702E-07
8581 33 V/I 46 rs1014791707 0.2225 None gnomAD-4.0.0 3.42351E-06
8581 33 V/L 46 rs1014791707 0.2225 None gnomAD-2.1.1 4.06E-06
8581 33 V/L 46 rs1014791707 0.2225 None gnomAD-4.0.0 1.36941E-06
8582 34 L/S 47 None 0.3471 None gnomAD-4.0.0 1.20032E-06
8582 34 L/V 47 rs1420202972 0.3471 None gnomAD-2.1.1 7.18E-06
8582 34 L/V 47 rs1420202972 0.3471 None gnomAD-3.1.2 6.58E-06
8582 34 L/V 47 rs1420202972 0.3471 None gnomAD-4.0.0 2.56512E-06
8583 35 W/R 48 None 0.1276 None gnomAD-4.0.0 2.05362E-06
8584 36 Y/C 49 rs1440957407 0.2045 None gnomAD-2.1.1 3.18E-05
8584 36 Y/C 49 rs1440957407 0.2045 None gnomAD-3.1.2 1.31E-05
8584 36 Y/C 49 rs1440957407 0.2045 None gnomAD-4.0.0 1.3146E-05
8584 36 Y/H 49 None 0.2045 None gnomAD-4.0.0 1.20032E-06
8586 38 D/N 51 rs1199035064 0.4373 None gnomAD-2.1.1 4.03E-06
8586 38 D/N 51 rs1199035064 0.4373 None gnomAD-4.0.0 3.42209E-06
8586 38 D/V 51 rs1484446680 0.4373 None gnomAD-2.1.1 4.03E-06
8586 38 D/V 51 rs1484446680 0.4373 None gnomAD-4.0.0 1.5924E-06
8587 39 E/D 52 rs2077371991 0.9158 None gnomAD-4.0.0 1.59227E-06
8587 39 E/K 52 rs760340908 0.9158 None gnomAD-2.1.1 8.07E-06
8587 39 E/K 52 rs760340908 0.9158 None gnomAD-4.0.0 1.09508E-05
8587 39 E/Q 52 rs760340908 0.9158 None gnomAD-2.1.1 4.03E-06
8587 39 E/Q 52 rs760340908 0.9158 None gnomAD-3.1.2 6.58E-06
8587 39 E/Q 52 rs760340908 0.9158 None gnomAD-4.0.0 6.57609E-06
8593 45 S/R 73 rs560562125 0.2409 None gnomAD-2.1.1 4.02E-06
8593 45 S/R 73 rs560562125 0.2409 None gnomAD-3.1.2 6.58E-06
8593 45 S/R 73 rs560562125 0.2409 None 1000 genomes 1.99681E-04
8593 45 S/R 73 rs560562125 0.2409 None gnomAD-4.0.0 6.57255E-06
8594 46 S/G 111 None 0.8008 None gnomAD-4.0.0 2.40064E-06
8594 46 S/N 111 rs759108676 0.8008 None gnomAD-2.1.1 4.02E-06
8594 46 S/N 111 rs759108676 0.8008 None gnomAD-4.0.0 1.20032E-06
8594 46 S/R 111 None 0.8008 None gnomAD-4.0.0 6.84299E-07
8595 47 K/N 115 None 0.1990 None gnomAD-4.0.0 1.59172E-06
8595 47 K/Q 115 None 0.1990 None gnomAD-4.0.0 1.36859E-06
8595 47 K/R 115 rs774140425 0.1990 None gnomAD-2.1.1 2.01E-05
8595 47 K/R 115 rs774140425 0.1990 None gnomAD-3.1.2 6.57E-06
8595 47 K/R 115 rs774140425 0.1990 None gnomAD-4.0.0 1.66584E-05
8598 50 M/I 123 rs770947302 0.2644 None gnomAD-2.1.1 1.21E-05
8598 50 M/I 123 rs770947302 0.2644 None gnomAD-4.0.0 3.18338E-06
8598 50 M/T 123 None 0.2644 None gnomAD-4.0.0 1.20032E-06
8598 50 M/V 123 rs1180662147 0.2644 None gnomAD-3.1.2 6.57E-06
8598 50 M/V 123 rs1180662147 0.2644 None gnomAD-4.0.0 6.57393E-06
8600 52 F/L 127 None 0.3141 None gnomAD-4.0.0 1.59164E-06
8600 52 F/Y 127 None 0.3141 None gnomAD-4.0.0 1.20032E-06
8601 53 V/F 130 rs184812963 0.6541 None gnomAD-2.1.1 5E-05
8601 53 V/F 130 rs184812963 0.6541 None gnomAD-3.1.2 1.97E-05
8601 53 V/F 130 rs184812963 0.6541 None 1000 genomes 1.99681E-04
8601 53 V/F 130 rs184812963 0.6541 None gnomAD-4.0.0 1.42535E-05
8601 53 V/I 130 rs184812963 0.6541 None gnomAD-2.1.1 4.02E-06
8601 53 V/I 130 rs184812963 0.6541 None gnomAD-4.0.0 5.47425E-06
8602 54 D/E 131 None 0.8725 None gnomAD-4.0.0 6.84271E-07
8603 55 S/L 134 rs781354478 0.3293 None gnomAD-2.1.1 1.21E-05
8603 55 S/L 134 rs781354478 0.3293 None gnomAD-3.1.2 1.32E-05
8603 55 S/L 134 rs781354478 0.3293 None gnomAD-4.0.0 6.81796E-06
8603 55 S/P 134 rs748398405 0.3293 None gnomAD-2.1.1 4.02E-06
8603 55 S/P 134 rs748398405 0.3293 None gnomAD-3.1.2 6.57E-06
8603 55 S/P 134 rs748398405 0.3293 None gnomAD-4.0.0 6.57324E-06
8603 55 S/W 134 None 0.3293 None gnomAD-4.0.0 6.84275E-07
8604 56 V/A 135 None 0.2126 None gnomAD-4.0.0 1.59158E-06
8604 56 V/M 135 rs1160730554 0.2126 None gnomAD-2.1.1 4.02E-06
8604 56 V/M 135 rs1160730554 0.2126 None gnomAD-4.0.0 1.59157E-06
8605 57 A/T 136 None 0.0812 None gnomAD-4.0.0 1.59158E-06
8606 58 V/G 137 rs747173071 0.1328 None gnomAD-2.1.1 8.04E-06
8606 58 V/G 137 rs747173071 0.1328 None gnomAD-4.0.0 1.59157E-06
8606 58 V/L 137 None 0.1328 None gnomAD-4.0.0 6.84269E-07
8606 58 V/M 137 rs1453874617 0.1328 None gnomAD-2.1.1 4.02E-06
8606 58 V/M 137 rs1453874617 0.1328 None gnomAD-4.0.0 6.84269E-07
8607 59 L/P 138 rs780404365 0.0709 None gnomAD-2.1.1 4.02E-06
8607 59 L/R 138 None 0.0709 None gnomAD-4.0.0 1.59155E-06
8608 60 E/A 139 None 0.2408 None gnomAD-4.0.0 6.84262E-07
8608 60 E/G 139 None 0.2408 None gnomAD-4.0.0 6.84262E-07
8609 61 M/I 140 rs1407524421 0.0703 None gnomAD-4.0.0 2.05282E-06
8609 61 M/V 140 rs1369418506 0.0703 None gnomAD-3.1.2 6.57E-06
8609 61 M/V 140 rs1369418506 0.0703 None gnomAD-4.0.0 6.57445E-06
8610 62 H/P 141 None 0.3182 None gnomAD-4.0.0 6.84261E-07
8610 62 H/Q 141 rs200939405 0.3182 None gnomAD-2.1.1 3.21E-05
8610 62 H/Q 141 rs200939405 0.3182 None gnomAD-3.1.2 5.92E-05
8610 62 H/Q 141 rs200939405 0.3182 None gnomAD-4.0.0 8.67733E-06
8610 62 H/R 141 rs561059250 0.3182 None gnomAD-2.1.1 3.57E-05
8610 62 H/R 141 rs561059250 0.3182 None gnomAD-3.1.2 3.29E-05
8610 62 H/R 141 rs561059250 0.3182 None 1000 genomes 1.99681E-04
8610 62 H/R 141 rs561059250 0.3182 None gnomAD-4.0.0 1.98311E-05
8611 63 N/K 143 None 0.8106 None gnomAD-4.0.0 1.20032E-06
8611 63 N/S 143 rs779262321 0.8106 None gnomAD-2.1.1 1.21E-05
8611 63 N/S 143 rs779262321 0.8106 None gnomAD-3.1.2 6.58E-06
8611 63 N/S 143 rs779262321 0.8106 None gnomAD-4.0.0 2.16925E-05
8612 64 L/F 144 rs755695660 0.1091 None gnomAD-2.1.1 4.02E-06
8612 64 L/F 144 rs755695660 0.1091 None gnomAD-3.1.2 6.58E-06
8612 64 L/F 144 rs755695660 0.1091 None gnomAD-4.0.0 1.85944E-06
8612 64 L/R 144 rs1345942434 0.1091 None gnomAD-3.1.2 6.58E-06
8612 64 L/R 144 rs1345942434 0.1091 None gnomAD-4.0.0 6.58155E-06
8613 65 S/R 145 None 0.1842 None gnomAD-4.0.0 6.84264E-07
8614 66 V/A 146 None 0.5447 None gnomAD-4.0.0 1.59153E-06
8615 67 E/D 148 rs758944073 0.5805 None gnomAD-2.1.1 4.02E-06
8615 67 E/D 148 rs758944073 0.5805 None gnomAD-4.0.0 6.84269E-07
8617 69 S/I 151 None 0.2142 None gnomAD-4.0.0 1.5916E-06
8617 69 S/N 151 rs1361559046 0.2142 None gnomAD-2.1.1 8.05E-06
8617 69 S/N 151 rs1361559046 0.2142 None gnomAD-4.0.0 6.36641E-06
8618 70 G/E 152 rs369947439 0.1766 None gnomAD-2.1.1 4.42E-05
8618 70 G/E 152 rs369947439 0.1766 None gnomAD-3.1.2 6.58E-05
8618 70 G/E 152 rs369947439 0.1766 None gnomAD-4.0.0 4.89647E-05
8619 71 D/G 153 rs2077359221 0.5568 None gnomAD-4.0.0 4.10566E-06
8620 72 Y/C 154 None 0.1125 None gnomAD-4.0.0 1.59163E-06
8621 73 T/I 155 None 0.2129 None gnomAD-4.0.0 6.84286E-07
8621 73 T/N 155 rs899151063 0.2129 None gnomAD-2.1.1 8.05E-06
8621 73 T/N 155 rs899151063 0.2129 None gnomAD-3.1.2 6.57E-06
8621 73 T/N 155 rs899151063 0.2129 None gnomAD-4.0.0 4.33843E-06
8622 74 C/Y 156 None 0.0578 None gnomAD-4.0.0 1.59168E-06
8623 75 E/D 157 None 0.3226 None gnomAD-4.0.0 1.36861E-06
8623 75 E/G 157 rs766190373 0.3226 None gnomAD-2.1.1 4.02E-06
8626 78 N/D 161 rs2077357318 0.1203 None gnomAD-3.1.2 6.57E-06
8626 78 N/D 161 rs2077357318 0.1203 None gnomAD-4.0.0 6.57177E-06
8626 78 N/S 161 rs200355367 0.1203 None gnomAD-2.1.1 1.21503E-04
8626 78 N/S 161 rs200355367 0.1203 None gnomAD-3.1.2 1.70882E-04
8626 78 N/S 161 rs200355367 0.1203 None gnomAD-4.0.0 3.26633E-04
8627 79 A/V 162 rs1349154909 0.6469 None gnomAD-2.1.1 3.19E-05
8627 79 A/V 162 rs1349154909 0.6469 None gnomAD-3.1.2 6.57E-06
8627 79 A/V 162 rs1349154909 0.6469 None gnomAD-4.0.0 2.02993E-06
8628 80 A/V 163 None 0.2701 None gnomAD-4.0.0 1.59257E-06
8629 81 G/S 164 rs2077356013 0.2188 None gnomAD-3.1.2 6.57E-06
8629 81 G/S 164 rs2077356013 0.2188 None gnomAD-4.0.0 6.57479E-06
8629 81 G/V 164 None 0.2188 None gnomAD-4.0.0 1.59355E-06
8630 82 S/C 165 None 0.5146 None gnomAD-4.0.0 1.20032E-06
8631 83 A/T 166 rs769720173 0.2020 None gnomAD-2.1.1 2.42E-05
8631 83 A/T 166 rs769720173 0.2020 None gnomAD-3.1.2 6.57E-06
8631 83 A/T 166 rs769720173 0.2020 None gnomAD-4.0.0 8.98124E-06
8632 84 S/G 168 None 0.4077 None gnomAD-4.0.0 2.40064E-06
8633 85 S/G 169 rs776980958 0.1059 None gnomAD-2.1.1 4.03E-06
8633 85 S/G 169 rs776980958 0.1059 None gnomAD-4.0.0 1.59484E-06
8634 86 S/C 171 rs769050572 0.3534 None gnomAD-2.1.1 1.21E-05
8634 86 S/C 171 rs769050572 0.3534 None gnomAD-3.1.2 6.57E-06
8634 86 S/C 171 rs769050572 0.3534 None gnomAD-4.0.0 3.10148E-06
8635 87 T/A 172 None 0.1006 None gnomAD-4.0.0 1.20039E-06
8635 87 T/I 172 rs1005082166 0.1006 None gnomAD-3.1.2 6.57E-06
8635 87 T/I 172 rs1005082166 0.1006 None gnomAD-4.0.0 1.24085E-06
8636 88 S/A 173 rs1448059327 0.3151 None gnomAD-2.1.1 4.04E-06
8636 88 S/A 173 rs1448059327 0.3151 None gnomAD-4.0.0 1.59608E-06
8636 88 S/T 173 rs1448059327 0.3151 None gnomAD-2.1.1 3.19E-05
8636 88 S/T 173 rs1448059327 0.3151 None gnomAD-3.1.2 6.57E-06
8636 88 S/T 173 rs1448059327 0.3151 None gnomAD-4.0.0 3.85262E-06
8638 90 K/N 175 None 0.6170 None gnomAD-4.0.0 1.59765E-06
8639 91 V/I 177 rs1427227571 0.1080 None gnomAD-2.1.1 4.05E-06
8639 91 V/I 177 rs1427227571 0.1080 None gnomAD-4.0.0 1.371E-06