PIEZO2 (Q9H5I5) variants and mutations
PIEZO2 (also known as Q9H5I5) is a human protein-coding gene encoding a piezo-type mechanosensitive ion channel component 2 protein. It converts mechanical force into electrical signals by opening a cation channel, enabling light-touch sensation and awareness of body position and movement. Activating variants can cause distal arthrogryposis syndromes with congenital joint contractures, while biallelic loss of function impairs proprioception and discriminative touch. This analysis covers 2,879 PIEZO2 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome, and distal arthrogryposis. Example PIEZO2 variants include M1T, A2V, and S3L.
Variant analysis overview
- Gene: PIEZO2
- Protein: Q9H5I5
- UniProt accession: Q9H5I5
- Organism: Homo sapiens
- Variants analyzed: 2879
- Variant scope: all variants
- Completed: 2026-10-22
Variant and mutation evidence
- Variant composition: 2,883 unspecified-consequence records; 3 stop lost; 1 stop retained variant; 8 frameshift variants; 40 synonymous variants; 160 missense variants; 8 stop-gained variants; 1 in-frame insertions; 1 splice-region variants
- Prediction scores: 2,762 variants have prediction scores (96% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Gordon syndrome, distal arthrogryposis, Marden-Walker syndrome, hereditary disease, arthrogryposis multiplex congenita, fetal akinesia deformation sequence 1, diverticular disease, neurodegenerative disease, schizophrenia, arthrogryposis, Abnormality of the skeletal system.
Protein structure and variant hotspots
- Protein features: 38 transmembrane segments; 3 post-translational modification sites.
- Structural context: 673 variants have structural context.
- PTM context: 8 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable PIEZO2 variants
Examples include M1T, A2V, S3L, E4*, E4D, E4K, V5A, V6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs780011297, gnomAD 18-10672692-A-G, ESM-1b 0.00, AlphaMissense 0.85
- A2V (p.Ala2Val), gnomAD rs939737622, REVEL 0.28, ESM-1b 0.00
- S3L (p.Ser3Leu), rs372099481, gnomAD 18-10672725-G-A, ESM-1b 0.00, AlphaMissense 0.39
- E4* (p.Glu4Ter), rs1276813954, ClinGen CA402030482, ClinVar RCV001824230, TOPMed rs1276813954, CADD 42.00, Likely pathogenic
- E4D (p.Glu4Asp), rs2040869213, ClinGen CA402030476, ClinVar RCV003845547, TOPMed rs2040869213, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided
- E4K (p.Glu4Lys), TOPMed rs1276813954, REVEL 0.22, ESM-1b 0.00, Likely pathogenic
- V5A (p.Val5Ala), TOPMed rs2040869151, REVEL 0.23, ESM-1b 0.00
- V6L (p.Val6Leu), rs1568417565, ClinGen CA402030468, ClinVar RCV000785010, Ensembl rs1568417565, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not specified
- V6A (p.Val6Ala), gnomAD 18-10672713-A-G, ESM-1b 0.00, AlphaMissense 0.28
- C7Y (p.Cys7Tyr), TOPMed rs1169177849, gnomAD rs1169177849, REVEL 0.48, ESM-1b 0.00
- C7A (p.Cys7Ala), NCI-TCGA TCGA novel, Ensembl rs1599033931, Variant assessed as somatic; high impact.
- G8R (p.Gly8Arg), gnomAD rs1372741057, REVEL 0.40, ESM-1b 0.00, Uncertain significance, Marden-Walker syndrome
- G8W (p.Gly8Trp), gnomAD rs1372741057, REVEL 0.35, ESM-1b 0.00
- G8D (p.Gly8Asp), rs768145082, gnomAD 18-10672707-C-T, ESM-1b 0.28, AlphaMissense 0.96
- L9V (p.Leu9Val), TOPMed rs1301146784, REVEL 0.08, ESM-1b 0.00
- R12S (p.Arg12Ser), gnomAD rs1048530216, REVEL 0.37, ESM-1b 1.00
- L14M (p.Leu14Met), cosmic curated COSV11409, TOPMed rs920937103, gnomAD rs920937103, REVEL 0.42, ESM-1b 0.13
- L14P (p.Leu14Pro), Ensembl rs2146314484, REVEL 0.72, ESM-1b 1.00
- L15V (p.Leu15Val), TOPMed rs1252002250, gnomAD rs1252002250, REVEL 0.37, ESM-1b 0.00
- P16L (p.Pro16Leu), Ensembl rs2146314459, REVEL 0.69, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- P16Q (p.Pro16Gln), gnomAD 18-10666792-G-T, ESM-1b 1.00, AlphaMissense 0.99
- P16H (p.Pro16His), rs903357786, gnomAD 18-10672719-G-T, ESM-1b 1.00, AlphaMissense 0.99
- P16R (p.Pro16Arg), rs903357786, gnomAD 18-10672719-G-C, ESM-1b 1.00, AlphaMissense 0.99
- L19L (p.Leu19Leu), rs983494181, gnomAD 18-10666803-C-T, CADD 1.67
- A20T (p.Ala20Thr), TOPMed rs2040867671, gnomAD rs2040867671, REVEL 0.09, ESM-1b 0.00
- A20V (p.Ala20Val), rs146400447, gnomAD 18-10672695-G-A, ESM-1b 0.00, AlphaMissense 0.13
- V21A (p.Val21Ala), ExAC rs763720769, gnomAD rs763720769, REVEL 0.26, ESM-1b 0.00
- V21V (p.Val21Val), rs763578042, gnomAD 18-10666797-C-T, CADD 1.59
- V21L (p.Val21Leu), gnomAD 18-10666799-C-A, ESM-1b 0.00, AlphaMissense 0.24
- C23R (p.Cys23Arg), gnomAD rs1364166635, REVEL 0.77, ESM-1b 1.00
- A24E (p.Ala24Glu), ExAC rs759000106, TOPMed rs759000106, gnomAD rs759000106, REVEL 0.37, ESM-1b 1.00, Uncertain significance
- A24V (p.Ala24Val), rs759000106, ClinGen CA8892883, ClinVar RCV002266837, ExAC rs759000106, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Gordon syndrome; Arthrogryposis, distal, with impaired proprioception and touch
- F25L (p.Phe25Leu), TOPMed rs1036820674, REVEL 0.35, ESM-1b 0.00
- F25S (p.Phe25Ser), rs1376238292, gnomAD 18-10666810-A-G, ESM-1b 0.33, AlphaMissense 0.85
- R26* (p.Arg26Ter), rs571918997, ClinGen CA296610256, cosmic curated COSV57449, ClinVar RCV003313531, CADD 39.00, Likely pathogenic
- R26L (p.Arg26Leu), TOPMed rs1338267898, gnomAD rs1338267898, REVEL 0.85, ESM-1b 1.00
- R26Q (p.Arg26Gln), rs1338267898, TOPMed rs1338267898, gnomAD rs1338267898, REVEL 0.78, ESM-1b 0.38, Variant assessed as somatic; moderate impact.
- R26G (p.Arg26Gly), rs2033617622, gnomAD 18-10666757-T-C, ESM-1b 1.00, AlphaMissense 0.99
- R26I (p.Arg26Ile), gnomAD 18-10666795-C-A, ESM-1b 1.00, AlphaMissense 1.00
- R26K (p.Arg26Lys), rs2143328960, gnomAD 18-10666807-C-T, ESM-1b 1.00, AlphaMissense 0.95
- Y27H (p.Tyr27His), ExAC rs776564753, REVEL 0.53, ESM-1b 0.31
- N28H (p.Asn28His), TOPMed rs1221401175, REVEL 0.45, ESM-1b 1.00
- G29V (p.Gly29Val), rs772178114, ClinGen CA8892881, cosmic curated COSV57450, ClinVar RCV001767399, REVEL 0.46, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; Arthrogryposis, distal, with impaired proprioception an
- G29R (p.Gly29Arg), rs2033617603, gnomAD 18-10666754-C-G, ESM-1b 1.00, AlphaMissense 0.96
- G29D (p.Gly29Asp), gnomAD 18-10666759-C-T, ESM-1b 1.00, AlphaMissense 0.97
- L30V (p.Leu30Val), ExAC rs760458761, gnomAD rs760458761, REVEL 0.39, ESM-1b 0.00
- S31F (p.Ser31Phe), cosmic curated COSV10883, TOPMed rs890959167, gnomAD rs890959167, REVEL 0.86, ESM-1b 1.00
- F32I (p.Phe32Ile), TOPMed rs748116550, gnomAD rs748116550, REVEL 0.29, ESM-1b 0.00, Uncertain significance
- F32L (p.Phe32Leu), rs748116550, ClinGen CA296610251, ClinVar RCV002887758, TOPMed rs748116550, REVEL 0.12, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- V33L (p.Val33Leu), Ensembl rs2038143552, REVEL 0.34, ESM-1b 0.00
- V33D (p.Val33Asp), rs1279623406, gnomAD 18-10666705-A-T, ESM-1b 1.00, AlphaMissense 0.96
- V33A (p.Val33Ala), rs2033617505, gnomAD 18-10666744-A-G, ESM-1b 0.17, AlphaMissense 0.39
- V33F (p.Val33Phe), gnomAD 18-10666745-C-A, ESM-1b 0.00, AlphaMissense 0.25
- Y34* (p.Tyr34Ter), TOPMed rs1050072209
- Y34C (p.Tyr34Cys), gnomAD rs1419799672, REVEL 0.90, ESM-1b 1.00
- Y34N (p.Tyr34Asn), gnomAD rs1411376101, REVEL 0.90, ESM-1b 1.00
- I36T (p.Ile36Thr), ESP rs375901716, ExAC rs375901716, TOPMed rs375901716, gnomAD rs375901716, REVEL 0.50, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- I36V (p.Ile36Val), Ensembl rs2038143023, REVEL 0.14, ESM-1b 0.00
- Y37H (p.Tyr37His), TOPMed rs2038142839, gnomAD rs2038142839, REVEL 0.58, ESM-1b 0.69, Uncertain significance, Inborn genetic diseases
- L38F (p.Leu38Phe), TOPMed rs1731615596, REVEL 0.42, ESM-1b 0.08
- L40F (p.Leu40Phe), Ensembl rs2145918267, REVEL 0.35, ESM-1b 0.00
- L40I (p.Leu40Ile), gnomAD 18-10666751-G-T, ESM-1b 0.00, AlphaMissense 0.27
- P42H (p.Pro42His), Ensembl rs1046801960, REVEL 0.86, ESM-1b 1.00
- P42P (p.Pro42Pro), gnomAD 18-10666767-T-C, CADD 0.74
- P42A (p.Pro42Ala), rs1270080972, gnomAD 18-10666769-G-C, ESM-1b 1.00, AlphaMissense 0.96
- P42T (p.Pro42Thr), gnomAD 18-10666775-G-T, ESM-1b 1.00, AlphaMissense 0.98
- L43V (p.Leu43Val), Ensembl rs949402610, REVEL 0.16, ESM-1b 0.00, Uncertain significance, not specified
- S45L (p.Ser45Leu), rs932596927, ClinGen CA296610247, ClinVar RCV002678007, TOPMed rs932596927, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S45S (p.Ser45Ser), rs954680404, gnomAD 18-10666713-G-A, CADD 0.33
- S45P (p.Ser45Pro), gnomAD 18-10666715-A-G, ESM-1b 0.00, AlphaMissense 0.12
- S45* (p.Ser45Ter), gnomAD 18-10666726-G-T, CADD 1.41
- S45T (p.Ser45Thr), rs1017368274, gnomAD 18-10666727-A-T, ESM-1b 0.00, AlphaMissense 0.17
- S45F (p.Ser45Phe), rs55705918, gnomAD 18-10666732-G-A, ESM-1b 0.00, AlphaMissense 0.52
- S45A (p.Ser45Ala), rs55786708, gnomAD 18-10666733-A-C, ESM-1b 0.00, AlphaMissense 0.07
- E46K (p.Glu46Lys), TOPMed rs2038142229, REVEL 0.22, ESM-1b 0.00
- P47Q (p.Pro47Gln), gnomAD rs1190752171, REVEL 0.56, ESM-1b 0.00
- P47H (p.Pro47His), gnomAD 18-10666675-G-T, ESM-1b 0.00, AlphaMissense 1.00
- P47T (p.Pro47Thr), rs2033616856, gnomAD 18-10666676-G-T, ESM-1b 0.00, AlphaMissense 0.97
- P47P (p.Pro47Pro), rs1395499664, gnomAD 18-10666716-C-T, CADD 0.17
- P47L (p.Pro47Leu), rs987807982, gnomAD 18-10666717-G-A, ESM-1b 0.00, AlphaMissense 0.97
- T48K (p.Thr48Lys), 1000Genomes rs538545186, REVEL 0.33, ESM-1b 0.00
- K49N (p.Lys49Asn), Ensembl rs2038141949, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog
- T50M (p.Thr50Met), cosmic curated COSV57435, TOPMed rs908820221, gnomAD rs908820221, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog
- T50P (p.Thr50Pro), TOPMed rs1486194607, gnomAD rs1486194607, REVEL 0.13, ESM-1b 0.00
- T51K (p.Thr51Lys), ESP rs371432372, ExAC rs371432372, TOPMed rs371432372, gnomAD rs371432372, REVEL 0.37, ESM-1b 0.00, Uncertain significance
- T51M (p.Thr51Met), rs371432372, ClinGen CA8892877, cosmic curated COSV57431, ClinVar RCV000660458, REVEL 0.38, ESM-1b 0.00, Conflicting interpretations, Arthrogryposis, distal, with impaired proprioception and touch; not specified; n
- T51R (p.Thr51Arg), ESP rs371432372, ExAC rs371432372, TOPMed rs371432372, gnomAD rs371432372, REVEL 0.40, ESM-1b 0.00, Uncertain significance
- T51S (p.Thr51Ser), TOPMed rs778506919, gnomAD rs778506919, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- M52T (p.Met52Thr), Ensembl rs2145918060, REVEL 0.49, ESM-1b 0.00
- Q53K (p.Gln53Lys), TOPMed rs1361875355, REVEL 0.19, ESM-1b 0.00
- Q53P (p.Gln53Pro), TOPMed rs1316183316, gnomAD rs1316183316, REVEL 0.27, ESM-1b 0.00
- Q53R (p.Gln53Arg), TOPMed rs1316183316, gnomAD rs1316183316, REVEL 0.19, ESM-1b 0.00
- Q53Q (p.Gln53Gln), gnomAD 18-10666710-C-T, CADD 1.84
- Q53H (p.Gln53His), gnomAD 18-10666764-C-A, ESM-1b 0.00, AlphaMissense 0.28
- Q53* (p.Gln53Ter), gnomAD 18-10666766-G-A, CADD 0.27
- G54V (p.Gly54Val), Ensembl rs913165782, REVEL 0.59, ESM-1b 0.00
- H55P (p.His55Pro), rs145948919, ClinGen CA8892875, cosmic curated COSV10012, ClinVar RCV000242269, REVEL 0.46, ESM-1b 0.00, Benign/Likely benign, not specified; not provided
- H55Q (p.His55Gln), gnomAD 18-10666740-G-T, ESM-1b 0.00, AlphaMissense 0.52
- H55H (p.His55His), gnomAD 18-10666740-G-A, CADD 2.04
- H55R (p.His55Arg), rs1045804928, gnomAD 18-10666741-T-C, ESM-1b 0.00, AlphaMissense 0.32
- H55N (p.His55Asn), gnomAD 18-10666742-G-T, ESM-1b 0.00, AlphaMissense 0.23
- H55Y (p.His55Tyr), rs2143328857, gnomAD 18-10666742-G-A, ESM-1b 0.00, AlphaMissense 0.21
- p.His32 Pro33insValArg, rs2033617731, gnomAD 18-10666775-G-GTC, CADD 1.47
- T56M (p.Thr56Met), rs957467830, TOPMed rs957467830, REVEL 0.44, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G57G (p.Gly57Gly), gnomAD 18-10666683-G-T, CADD 0.36
- G57V (p.Gly57Val), rs58474272, gnomAD 18-10666684-C-A, ESM-1b 0.00, AlphaMissense 0.88
- G57S (p.Gly57Ser), rs1009276329, gnomAD 18-10666685-C-T, ESM-1b 0.00, AlphaMissense 0.42
- G57C (p.Gly57Cys), gnomAD 18-10666685-C-A, ESM-1b 0.00, AlphaMissense 0.88
- R58L (p.Arg58Leu), TOPMed rs879674484, gnomAD rs879674484, REVEL 0.49, ESM-1b 0.00, Uncertain significance
- R58Q (p.Arg58Gln), rs879674484, ClinGen CA296599940, NCI-TCGA Cosmic COSV5743, cosmic curated COSV57433, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided
- R58W (p.Arg58Trp), rs142351929, ClinGen CA8892873, cosmic curated COSV10012, ClinVar RCV002579236, REVEL 0.61, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided; PIEZO2-related disorder
- R58M (p.Arg58Met), gnomAD 18-10666696-C-A, ESM-1b 0.45, AlphaMissense 0.36
- L59* (p.Leu59Ter), Ensembl rs2070325590
- L59I (p.Leu59Ile), rs1278053718, gnomAD 18-10666703-G-T, ESM-1b 0.00, AlphaMissense 0.29
- K61N (p.Lys61Asn), gnomAD rs1456989099, REVEL 0.23, ESM-1b 0.00
- L63I (p.Leu63Ile), rs1283717775, gnomAD 18-10666679-G-T, ESM-1b 0.00, AlphaMissense 0.18
- L63F (p.Leu63Phe), rs1283717775, gnomAD 18-10666679-G-A, ESM-1b 0.00, AlphaMissense 0.54
- C64S (p.Cys64Ser), 1000Genomes rs574038773, TOPMed rs574038773, gnomAD rs574038773, REVEL 0.44, ESM-1b 0.00
- C64Y (p.Cys64Tyr), TOPMed rs1719156620, REVEL 0.38, ESM-1b 0.00
- F65F (p.Phe65Phe), rs149133915, gnomAD 18-10666689-G-A, CADD 1.52
- I66I (p.Ile66Ile), gnomAD 18-10666692-G-T, CADD 3.95
- I66F (p.Ile66Phe), gnomAD 18-10666694-T-A, ESM-1b 0.00, AlphaMissense 0.08
- S67I (p.Ser67Ile), TOPMed rs1014032818, gnomAD rs1014032818, REVEL 0.70, ESM-1b 1.00
- S67N (p.Ser67Asn), TOPMed rs1014032818, gnomAD rs1014032818, REVEL 0.35, ESM-1b 1.00
- S69P (p.Ser69Pro), gnomAD 18-10666664-A-G, ESM-1b 0.00, AlphaMissense 0.52
- L72M (p.Leu72Met), gnomAD rs1421224897, REVEL 0.35, ESM-1b 0.49
- L73Q (p.Leu73Gln), gnomAD rs1178255291, REVEL 0.40, ESM-1b 1.00
- L73V (p.Leu73Val), ExAC rs757777810, gnomAD rs757777810, REVEL 0.17, ESM-1b 0.00
- L73* (p.Leu73Ter), rs547918847, gnomAD 18-10666654-A-T, CADD 1.68
- H74Q (p.His74Gln), ExAC rs778169191, gnomAD rs778169191, REVEL 0.38, ESM-1b 0.00
- H74R (p.His74Arg), ExAC rs751925471, TOPMed rs751925471, gnomAD rs751925471, REVEL 0.56, ESM-1b 0.00
- H78L (p.His78Leu), TOPMed rs932171957, gnomAD rs932171957, REVEL 0.47, ESM-1b 0.00
- I79V (p.Ile79Val), rs2034587941, ClinGen CA402028479, ClinVar RCV004527921, TOPMed rs2034587941, REVEL 0.32, ESM-1b 0.00, Uncertain significance, PIEZO2-related disorder
- T80M (p.Thr80Met), rs370661809, ClinGen CA8892869, ClinVar RCV002284793, ESP rs370661809, REVEL 0.21, ESM-1b 0.00, Uncertain significance, not provided
- L81F (p.Leu81Phe), rs1217929975, NCI-TCGA Cosmic COSV5746, cosmic curated COSV57461, gnomAD rs1217929975, REVEL 0.27, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- L81I (p.Leu81Ile), gnomAD 18-10666628-G-T, ESM-1b 0.00, AlphaMissense 0.09
- V82G (p.Val82Gly), rs367654206, gnomAD 18-10666672-A-C, ESM-1b 0.00, AlphaMissense 0.09
- V82M (p.Val82Met), rs1032095055, gnomAD 18-10666673-C-T, ESM-1b 0.00, AlphaMissense 0.12
- S83R (p.Ser83Arg), TOPMed rs1473578503, gnomAD rs1473578503, REVEL 0.42, ESM-1b 0.00
- S83S (p.Ser83Ser), rs896108316, gnomAD 18-10666614-G-A, CADD 0.08
- L84F (p.Leu84Phe), TOPMed rs1415197380, gnomAD rs1415197380, REVEL 0.15, ESM-1b 0.00
- L84P (p.Leu84Pro), TOPMed rs1308170093, gnomAD rs1308170093, REVEL 0.57, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- L84L (p.Leu84Leu), gnomAD 18-10666605-A-G, CADD 2.19
- L84I (p.Leu84Ile), gnomAD 18-10666607-G-T, ESM-1b 0.00, AlphaMissense 0.19
- E85Q (p.Glu85Gln), rs115504680, gnomAD 18-10666634-C-G, ESM-1b 0.00, AlphaMissense 0.18
- E85* (p.Glu85Ter), gnomAD 18-10666634-C-A, CADD 0.66
- A86G (p.Ala86Gly), ExAC rs766288551, gnomAD rs766288551, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A86T (p.Ala86Thr), ExAC rs753345300, gnomAD rs753345300, REVEL 0.16, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A86A (p.Ala86Ala), rs776954223, gnomAD 18-10666623-T-C, CADD 0.94
- A86E (p.Ala86Glu), gnomAD 18-10666624-G-T, ESM-1b 0.00, AlphaMissense 0.25
- A86S (p.Ala86Ser), gnomAD 18-10666625-C-A, ESM-1b 0.00, AlphaMissense 0.09
- A86D (p.Ala86Asp), gnomAD 18-10666669-G-T, ESM-1b 0.00, AlphaMissense 0.31
- A86V (p.Ala86Val), rs1333247646, gnomAD 18-10666669-G-A, ESM-1b 0.00, AlphaMissense 0.16
- Q87* (p.Gln87Ter), TOPMed rs757533147, gnomAD rs757533147, CADD 38.00
- Q87E (p.Gln87Glu), TOPMed rs757533147, gnomAD rs757533147, REVEL 0.22, ESM-1b 0.00
- Q87R (p.Gln87Arg), rs2143328637, gnomAD 18-10666621-T-C, ESM-1b 0.00, AlphaMissense 0.09
- Q87H (p.Gln87His), rs1598332590, gnomAD 18-10666650-C-A, ESM-1b 0.00, AlphaMissense 0.20
- Q87K (p.Gln87Lys), gnomAD 18-10666652-G-T, ESM-1b 0.00, AlphaMissense 0.09
- H88L (p.His88Leu), TOPMed rs2034586210, REVEL 0.16, ESM-1b 0.00
- H88R (p.His88Arg), TOPMed rs2034586210, REVEL 0.04, ESM-1b 0.00
- R89C (p.Arg89Cys), rs557549695, ClinGen CA296599931, cosmic curated COSV10964, ClinVar RCV002593160, REVEL 0.30, ESM-1b 0.00, Uncertain significance, not provided
- R89H (p.Arg89His), ESP rs368872771, ExAC rs368872771, TOPMed rs368872771, gnomAD rs368872771, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A91S (p.Ala91Ser), TOPMed rs1361738068, gnomAD rs1361738068, REVEL 0.02, ESM-1b 0.00
- A91V (p.Ala91Val), rs374753475, ClinGen CA8892861, ClinVar RCV003000241, 1000Genomes rs374753475, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- A91A (p.Ala91Ala), gnomAD 18-10666602-T-C, CADD 1.65
- A91E (p.Ala91Glu), rs562793, gnomAD 18-10666603-G-T, ESM-1b 0.00, AlphaMissense 0.10
- A91H (p.Ala91His), gnomAD 18-10666603-GC-G, CADD 0.47
- P92H (p.Pro92His), gnomAD 18-10666596-TG-T, CADD 0.12
- P92P (p.Pro92Pro), rs902922382, gnomAD 18-10666596-T-C, CADD 0.15
- P92L (p.Pro92Leu), gnomAD 18-10666597-G-A, ESM-1b 0.00, AlphaMissense 0.12
- P92R (p.Pro92Arg), rs771011257, gnomAD 18-10666597-G-C, ESM-1b 0.00, AlphaMissense 0.12
- P92S (p.Pro92Ser), gnomAD 18-10666598-G-A, ESM-1b 0.00, AlphaMissense 0.09
- G93S (p.Gly93Ser), Ensembl rs1598775601, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G93G (p.Gly93Gly), gnomAD 18-10666611-A-C, CADD 0.57
- G93* (p.Gly93Ter), rs1259482996, gnomAD 18-10666640-C-A, CADD 0.12
- Y94Y (p.Tyr94Tyr), gnomAD 18-10666608-A-G, CADD 0.17
- Y94C (p.Tyr94Cys), gnomAD 18-10666609-T-C, ESM-1b 0.00, AlphaMissense 0.34
- N95M (p.Asn95Met), gnomAD 18-10666641-AT-A, CADD 0.89
- N95K (p.Asn95Lys), rs1333482303, gnomAD 18-10666680-G-T, ESM-1b 1.00, AlphaMissense 0.40
- N95S (p.Asn95Ser), rs557631967, gnomAD 18-10666681-T-C, ESM-1b 0.03, AlphaMissense 0.08
Public PIEZO2 analysis runs
- PIEZO2 analysis run — PIEZO2 (2,879 variants) — completed 2026-10-22