FSHR (P23945) variants and mutations
FSHR (also known as P23945) is a human protein-coding gene encoding a follicle-stimulating hormone receptor protein. FSH signaling through this pathway drives ovarian follicle maturation and supports Sertoli-cell function and spermatogenesis. Loss-of-function variants can cause ovarian resistance or infertility, whereas activating variants can produce inappropriate ovarian responsiveness. This analysis covers 1,542 FSHR variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes 46,XX gonadal dysgenesis, ovarian hyperstimulation syndrome, and Infertility. Example FSHR variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: FSHR
- Protein: P23945
- UniProt accession: P23945
- Organism: Homo sapiens
- Variants analyzed: 1542
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,064 unspecified-consequence records; 229 missense variants; 207 synonymous variants; 31 frameshift variants; 6 stop-gained variants; 2 in-frame insertions; 2 in-frame deletions; 1 substitution
- Prediction scores: 1,405 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: 46,XX gonadal dysgenesis, ovarian hyperstimulation syndrome, Infertility, hypogonadotropic hypogonadism, anovulation, primary ovarian failure, female infertility, infertility disorder, hypogonadism, genetic non-acquired premature ovarian failure, polycystic ovary syndrome, male infertility.
Protein structure and variant hotspots
- Protein features: 7 transmembrane segments; 1 domains; 5 post-translational modification sites.
- Structural context: 466 variants have structural context.
- PTM context: 9 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 FSHR variants
Examples include M1?, M1I, M1T, A2T, L3V, L4F, L5P, V6D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs2465680218, ClinGen CA346817869, ClinVar RCV003457067, Uncertain significance
- M1T (p.Met1Thr), rs955385021, ClinGen CA47428784, ClinVar RCV000626622, MetaLR 0.47, MetaSVM -0.11, Pathogenic
- A2T (p.Ala2Thr), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, NCI-TCGA Cosmic COSV5862, REVEL 0.11, MetaLR 0.27, Variant assessed as somatic; moderate impact.
- L3V (p.Leu3Val), ESP rs371608596, gnomAD rs371608596, REVEL 0.11, MetaLR 0.31
- L4F (p.Leu4Phe), rs754449208, NCI-TCGA Cosmic COSV5863, cosmic curated COSV58635, ExAC rs754449208, REVEL 0.16, MetaLR 0.20, Variant assessed as somatic; moderate impact.
- L5P (p.Leu5Pro), TOPMed rs1673172078, REVEL 0.52, MetaLR 0.42
- V6D (p.Val6Asp), TOPMed rs1414804807
- S7P (p.Ser7Pro), ESP rs146918036, ExAC rs146918036, gnomAD rs146918036, REVEL 0.15, MetaLR 0.23
- L8F (p.Leu8Phe), rs115030945, ClinGen CA1654157, ClinVar RCV000243176, ClinVar RCV000314624, REVEL 0.08, MetaLR 0.20, Benign
- L8S (p.Leu8Ser), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, TOPMed rs1673171489, REVEL 0.27, MetaLR 0.27, Variant assessed as somatic; moderate impact.
- L9V (p.Leu9Val), 1000Genomes rs533522852, ExAC rs533522852, TOPMed rs533522852, gnomAD rs533522852, REVEL 0.06, MetaLR 0.19
- A10T (p.Ala10Thr), cosmic curated COSV58617, 1000Genomes rs182046434, ExAC rs182046434, REVEL 0.04, MetaLR 0.21
- F11L (p.Phe11Leu), rs1352532703, NCI-TCGA Cosmic COSV5863, cosmic curated COSV58634, TOPMed rs1352532703, REVEL 0.11, MetaLR 0.21, Variant assessed as somatic; moderate impact.
- F11V (p.Phe11Val), rs551113676, ClinGen CA1654154, ClinVar RCV003001037, ClinVar RCV004736295, REVEL 0.07, MetaLR 0.16, Uncertain significance
- L12P (p.Leu12Pro), ExAC rs762758659, TOPMed rs762758659, gnomAD rs762758659, REVEL 0.45, MetaLR 0.45
- L12Q (p.Leu12Gln), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, MetaLR 0.45, MetaSVM -0.14, Variant assessed as somatic; moderate impact.
- L12R (p.Leu12Arg), ExAC rs762758659, TOPMed rs762758659, gnomAD rs762758659, REVEL 0.50, MetaLR 0.45
- S13C (p.Ser13Cys), rs1476467611, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58622, gnomAD rs1476467611, REVEL 0.10, MetaLR 0.28, Variant assessed as somatic; moderate impact.
- S13R (p.Ser13Arg), NCI-TCGA Cosmic COSV5862, REVEL 0.09, MetaLR 0.25, Variant assessed as somatic; moderate impact.
- L14M (p.Leu14Met), Ensembl rs1673170749
- L14S (p.Leu14Ser), TOPMed rs1673170660
- G15C (p.Gly15Cys), rs1185063342, ClinGen CA346817791, ClinVar RCV002289092, gnomAD rs1185063342, REVEL 0.37, MetaLR 0.35, Uncertain significance
- G15V (p.Gly15Val), gnomAD rs1474692061, REVEL 0.45, MetaLR 0.49, Uncertain significance
- S16* (p.Ser16Ter), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, TOPMed rs983007484, Variant assessed as somatic; high impact.
- S16L (p.Ser16Leu), TOPMed rs983007484, MetaLR 0.15, MetaSVM -1.00
- G17* (p.Gly17Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G17E (p.Gly17Glu), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58623, NCI-TCGA Cosmic COSV5863, Variant assessed as somatic; moderate impact.
- C18Y (p.Cys18Tyr), Ensembl rs1673170245, MetaLR 0.99, MetaSVM 1.01
- H19L (p.His19Leu), gnomAD rs561684198, REVEL 0.57, MetaLR 0.77
- H19Q (p.His19Gln), gnomAD rs1233044588, REVEL 0.40, MetaLR 0.70
- H19R (p.His19Arg), gnomAD rs561684198
- H20N (p.His20Asn), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58627, Variant assessed as somatic; moderate impact.
- H20Q (p.His20Gln), TOPMed rs1673169874, MetaLR 0.53, MetaSVM 0.01
- H20R (p.His20Arg), Ensembl rs1005743334, REVEL 0.38, MetaLR 0.51
- R21L (p.Arg21Leu), cosmic curated COSV10441, ExAC rs767492233, TOPMed rs767492233, gnomAD rs767492233, MetaLR 0.75, MetaSVM 0.13, Uncertain significance
- R21Q (p.Arg21Gln), rs767492233, ClinGen CA1654150, cosmic curated COSV58626, ClinVar RCV003286079, REVEL 0.24, MetaLR 0.71, Uncertain significance
- R21W (p.Arg21Trp), rs769728050, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58622, ExAC rs769728050, REVEL 0.31, MetaLR 0.66, Variant assessed as somatic; moderate impact.
- I22V (p.Ile22Val), gnomAD rs1673169581, REVEL 0.28, MetaLR 0.74
- H24P (p.His24Pro), Ensembl rs1673169396
- S26F (p.Ser26Phe), gnomAD rs1336784074, REVEL 0.42, MetaLR 0.78
- N27D (p.Asn27Asp), TOPMed rs1472334197, MetaLR 0.74, MetaSVM 0.18
- N27S (p.Asn27Ser), Ensembl rs1673168984, REVEL 0.25, MetaLR 0.70
- R28M (p.Arg28Met), rs1271382357, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58624, gnomAD rs1271382357, REVEL 0.49, MetaLR 0.90, Variant assessed as somatic; moderate impact.
- R28S (p.Arg28Ser), cosmic curated COSV58629, 1000Genomes rs190096402, ExAC rs190096402, TOPMed rs190096402, REVEL 0.47, MetaLR 0.82, Uncertain significance
- V29L (p.Val29Leu), Ensembl rs1673168676
- F30C (p.Phe30Cys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, TOPMed rs1673168427, Variant assessed as somatic; moderate impact.
- F30I (p.Phe30Ile), TOPMed rs1673168499, MetaLR 0.90, MetaSVM 0.79
- L31V (p.Leu31Val), TOPMed rs1673168332, gnomAD rs1673168332, REVEL 0.39, MetaLR 0.80
- Q33* (p.Gln33Ter), cosmic curated COSV58624, ExAC rs777549537, TOPMed rs777549537
- E34D (p.Glu34Asp), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58627, TOPMed rs1477215586, REVEL 0.28, MetaLR 0.54, Variant assessed as somatic; moderate impact.
- E34K (p.Glu34Lys), NCI-TCGA Cosmic COSV5861, cosmic curated COSV58617, Ensembl rs887330616, Variant assessed as somatic; moderate impact.
- E34Q (p.Glu34Gln), Ensembl rs887330616
- S35N (p.Ser35Asn), NCI-TCGA TCGA novel, REVEL 0.46, MetaLR 0.92, Variant assessed as somatic; moderate impact.
- S35R (p.Ser35Arg), TOPMed rs995688665
- K36N (p.Lys36Asn), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, Variant assessed as somatic; moderate impact.
- T38A (p.Thr38Ala), TOPMed rs1673167692, REVEL 0.65, MetaLR 0.92
- T38R (p.Thr38Arg), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58624, REVEL 0.70, MetaLR 0.94, Variant assessed as somatic; moderate impact.
- E39D (p.Glu39Asp), NCI-TCGA TCGA novel, REVEL 0.52, MetaLR 0.87, Variant assessed as somatic; moderate impact.
- I40F (p.Ile40Phe), TOPMed rs969910938, gnomAD rs969910938, REVEL 0.69, MetaLR 0.84
- I40V (p.Ile40Val), TOPMed rs969910938, gnomAD rs969910938, REVEL 0.14, MetaLR 0.66
- P41A (p.Pro41Ala), TOPMed rs1335607309, gnomAD rs1335607309, REVEL 0.86, MetaLR 0.99
- P41L (p.Pro41Leu), NCI-TCGA Cosmic COSV5861, cosmic curated COSV58619, Variant assessed as somatic; moderate impact.
- P41S (p.Pro41Ser), NCI-TCGA Cosmic COSV5863, cosmic curated COSV58635, REVEL 0.89, MetaLR 0.99, Variant assessed as somatic; moderate impact.
- S42F (p.Ser42Phe), NCI-TCGA TCGA novel, MetaLR 0.88, MetaSVM 0.75, Variant assessed as somatic; moderate impact.
- D43E (p.Asp43Glu), ExAC rs758079218, TOPMed rs758079218, gnomAD rs758079218, REVEL 0.66, MetaLR 0.91
- D43Y (p.Asp43Tyr), TOPMed rs1673167325
- L44F (p.Leu44Phe), TOPMed rs1023729818, gnomAD rs1023729818, REVEL 0.68, MetaLR 0.86
- L44I (p.Leu44Ile), NCI-TCGA Cosmic COSV9906, cosmic curated COSV99065, REVEL 0.33, MetaLR 0.67, Variant assessed as somatic; moderate impact.
- P45L (p.Pro45Leu), cosmic curated COSV58630, ExAC rs369583512, TOPMed rs369583512, gnomAD rs369583512, REVEL 0.88, MetaLR 0.98
- P45Q (p.Pro45Gln), NCI-TCGA Cosmic COSV5863, cosmic curated COSV58634, REVEL 0.87, MetaLR 0.98, Variant assessed as somatic; moderate impact.
- P45R (p.Pro45Arg), ExAC rs369583512, TOPMed rs369583512, gnomAD rs369583512, REVEL 0.89, MetaLR 0.98
- P45S (p.Pro45Ser), rs1463482771, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, gnomAD rs1463482771, REVEL 0.84, MetaLR 0.97, Variant assessed as somatic; moderate impact.
- P45T (p.Pro45Thr), NCI-TCGA Cosmic COSV1004, Variant assessed as somatic; moderate impact.
- R46K (p.Arg46Lys), ExAC rs750934104, gnomAD rs750934104, REVEL 0.34, MetaLR 0.42
- R46M (p.Arg46Met), ExAC rs750934104, gnomAD rs750934104, REVEL 0.47, MetaLR 0.61
- R46S (p.Arg46Ser), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, TOPMed rs1673166650, Variant assessed as somatic; moderate impact.
- R46T (p.Arg46Thr), ExAC rs750934104, gnomAD rs750934104, REVEL 0.43, MetaLR 0.38
- N47I (p.Asn47Ile), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, MetaLR 0.66, MetaSVM 0.34, Variant assessed as somatic; moderate impact.
- N47K (p.Asn47Lys), ExAC rs767532725, gnomAD rs767532725, REVEL 0.48, MetaLR 0.47
- A48G (p.Ala48Gly), ExAC rs761927857, gnomAD rs761927857
- A48V (p.Ala48Val), cosmic curated COSV58636, ExAC rs761927857, gnomAD rs761927857, REVEL 0.22, MetaLR 0.34
- I49N (p.Ile49Asn), NCI-TCGA Cosmic COSV5863, cosmic curated COSV58634, Variant assessed as somatic; moderate impact.
- I49T (p.Ile49Thr), ExAC rs751588754, TOPMed rs751588754, gnomAD rs751588754, REVEL 0.21, MetaLR 0.15
- I49V (p.Ile49Val), TOPMed rs1014049192, gnomAD rs1014049192, REVEL 0.15, MetaLR 0.14
- E50K (p.Glu50Lys), NCI-TCGA Cosmic COSV1004, NCI-TCGA Cosmic COSV5861, cosmic curated COSV58618, Variant assessed as somatic; moderate impact.
- E50Q (p.Glu50Gln), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, NCI-TCGA Cosmic COSV5861, Ensembl rs1673166067, MetaLR 0.67, MetaSVM 0.19, Variant assessed as somatic; moderate impact.
- L51=, NCI-TCGA Cosmic COSV5862, Variant assessed as somatic; low impact.
- L51M (p.Leu51Met), ExAC rs764329561, gnomAD rs764329561, REVEL 0.60, MetaLR 0.78
- R52G (p.Arg52Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R52K (p.Arg52Lys), gnomAD rs1359315892, REVEL 0.53, MetaLR 0.61
- R52W (p.Arg52Trp), NCI-TCGA TCGA novel, MetaLR 0.66, MetaSVM 0.33, Variant assessed as somatic; moderate impact.
- F53S (p.Phe53Ser), ExAC rs759354921, TOPMed rs759354921, gnomAD rs759354921, REVEL 0.85, MetaLR 0.66
- F53V (p.Phe53Val), NCI-TCGA TCGA novel, Ensembl rs1572701837, MetaLR 0.37, MetaSVM -0.43, Variant assessed as somatic; moderate impact.
- V54I (p.Val54Ile), TOPMed rs1415490382, REVEL 0.41, MetaLR 0.57
- L55F (p.Leu55Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T56A (p.Thr56Ala), cosmic curated COSV58629, TOPMed rs984243877, REVEL 0.77, MetaLR 0.70
- T56N (p.Thr56Asn), NCI-TCGA TCGA novel, MetaLR 0.52, MetaSVM -0.08, Variant assessed as somatic; moderate impact.
- K57N (p.Lys57Asn), ExAC rs776243997, TOPMed rs776243997, gnomAD rs776243997, REVEL 0.36, MetaLR 0.51
- L58I (p.Leu58Ile), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, NCI-TCGA Cosmic COSV5862, Variant assessed as somatic; moderate impact.
- R59* (p.Arg59Ter), rs1376736747, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58626, CADD 48.00, Variant assessed as somatic; high impact.
- R59L (p.Arg59Leu), NCI-TCGA Cosmic COSV5861, MetaLR 0.43, MetaSVM -0.16, Variant assessed as somatic; moderate impact.
- R59Q (p.Arg59Gln), rs867447724, ClinGen CA47352743, NCI-TCGA Cosmic COSV5861, cosmic curated COSV58619, REVEL 0.16, MetaLR 0.26, Uncertain significance
- V60A (p.Val60Ala), 1000Genomes rs562762324, ExAC rs562762324, REVEL 0.41, MetaLR 0.60
- V60I (p.Val60Ile), ESP rs370447252, ExAC rs370447252, gnomAD rs370447252, REVEL 0.37, MetaLR 0.48
- I61N (p.Ile61Asn), ExAC rs772911094, TOPMed rs772911094, gnomAD rs772911094, REVEL 0.85, MetaLR 0.81
- I61T (p.Ile61Thr), ExAC rs772911094, TOPMed rs772911094, gnomAD rs772911094, REVEL 0.86, MetaLR 0.78
- Q62H (p.Gln62His), ExAC rs771701919, gnomAD rs771701919, REVEL 0.27, MetaLR 0.18
- G64D (p.Gly64Asp), Ensembl rs2103618574
- A65E (p.Ala65Glu), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58621, REVEL 0.81, MetaLR 0.73, Variant assessed as somatic; moderate impact.
- A65V (p.Ala65Val), ExAC rs747839893, gnomAD rs747839893, REVEL 0.70, MetaLR 0.63
- F66I (p.Phe66Ile), gnomAD rs749701827, REVEL 0.88, MetaLR 0.84
- F66L (p.Phe66Leu), gnomAD rs749701827, MetaLR 0.80, MetaSVM 0.68
- S67L (p.Ser67Leu), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58621, MetaLR 0.28, MetaSVM -0.83, Variant assessed as somatic; moderate impact.
- G68E (p.Gly68Glu), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58625, Variant assessed as somatic; moderate impact.
- G68R (p.Gly68Arg), TOPMed rs1669585703, REVEL 0.73, MetaLR 0.85
- F69C (p.Phe69Cys), cosmic curated COSV58619, ExAC rs768142525, gnomAD rs768142525, MetaLR 0.56, MetaSVM 0.04
- G70A (p.Gly70Ala), rs148279853, ClinGen CA1654101, ClinVar RCV000895288, 1000Genomes rs148279853, REVEL 0.13, MetaLR 0.21, Likely benign
- G70E (p.Gly70Glu), 1000Genomes rs148279853, ESP rs148279853, ExAC rs148279853, TOPMed rs148279853, REVEL 0.12, MetaLR 0.24, Likely benign
- G70W (p.Gly70Trp), cosmic curated COSV58624, Ensembl rs2103618528
- D71G (p.Asp71Gly), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58621, MetaLR 0.45, MetaSVM -0.25, Variant assessed as somatic; moderate impact.
- L72Q (p.Leu72Gln), cosmic curated COSV10516, ESP rs142755430, ExAC rs142755430, gnomAD rs142755430, REVEL 0.94, MetaLR 0.91
- L72R (p.Leu72Arg), ESP rs142755430, ExAC rs142755430, gnomAD rs142755430, REVEL 0.93, MetaLR 0.91
- E73* (p.Glu73Ter), gnomAD rs773462398, CADD 49.00
- E73A (p.Glu73Ala), TOPMed rs897747407, MetaLR 0.31, MetaSVM -0.51
- E73G (p.Glu73Gly), NCI-TCGA TCGA novel, TOPMed rs897747407, REVEL 0.59, MetaLR 0.40, Variant assessed as somatic; moderate impact.
- E73Q (p.Glu73Gln), gnomAD rs773462398, REVEL 0.37, MetaLR 0.31
- K74I (p.Lys74Ile), gnomAD rs1669584847, MetaLR 0.39, MetaSVM -0.32
- K74N (p.Lys74Asn), gnomAD rs1004632178, REVEL 0.25, MetaLR 0.46
- E76* (p.Glu76Ter), NCI-TCGA Cosmic COSV5863, cosmic curated COSV58633, Variant assessed as somatic; high impact.
- E76A (p.Glu76Ala), ExAC rs779111613, gnomAD rs779111613, REVEL 0.75, MetaLR 0.74
- E76D (p.Glu76Asp), ExAC rs768583889, gnomAD rs768583889, REVEL 0.58, MetaLR 0.56
- E76Q (p.Glu76Gln), cosmic curated COSV10516, ExAC rs748549199, gnomAD rs748549199, REVEL 0.61, MetaLR 0.77
- I77V (p.Ile77Val), 1000Genomes rs201949594, MetaLR 0.75, MetaSVM 0.58
- S78A (p.Ser78Ala), Ensembl rs1473192678
- Q79K (p.Gln79Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q79L (p.Gln79Leu), cosmic curated COSV10880, Ensembl rs2104220009
- Q79P (p.Gln79Pro), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58620, Variant assessed as somatic; moderate impact.
- N80S (p.Asn80Ser), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, MetaLR 0.70, MetaSVM 0.35, Variant assessed as somatic; moderate impact.
- D81N (p.Asp81Asn), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58621, REVEL 0.37, MetaLR 0.62, Variant assessed as somatic; moderate impact.
- L83F (p.Leu83Phe), Ensembl rs1667637107, REVEL 0.56, MetaLR 0.65
- E84K (p.Glu84Lys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, Variant assessed as somatic; moderate impact.
- V85A (p.Val85Ala), gnomAD rs1205166456, REVEL 0.17, MetaLR 0.21
- I86T (p.Ile86Thr), rs750246214, ClinGen CA1654053, ClinVar RCV002946974, ExAC rs750246214, REVEL 0.74, MetaLR 0.67, Uncertain significance
- E87D (p.Glu87Asp), TOPMed rs267599405, gnomAD rs267599405, REVEL 0.49, MetaLR 0.55
- A88E (p.Ala88Glu), ESP rs145775250, TOPMed rs145775250, gnomAD rs145775250
- A88S (p.Ala88Ser), TOPMed rs1226901298, gnomAD rs1226901298, REVEL 0.35, MetaLR 0.53
- A88V (p.Ala88Val), cosmic curated COSV10043, ESP rs145775250, TOPMed rs145775250, gnomAD rs145775250, REVEL 0.48, MetaLR 0.60
- D89G (p.Asp89Gly), gnomAD rs1348395932
- D89H (p.Asp89His), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58623, Variant assessed as somatic; moderate impact.
- D89Y (p.Asp89Tyr), 1000Genomes rs140960768, ESP rs140960768, ExAC rs140960768, TOPMed rs140960768, REVEL 0.39, MetaLR 0.37
- D89N (p.Asp89Asn), rs991651509, []
- V90M (p.Val90Met), gnomAD rs1305281509, REVEL 0.44, MetaLR 0.64
- F91L (p.Phe91Leu), gnomAD rs1667636136, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, REVEL 0.77, MetaLR 0.68, Variant assessed as somatic; moderate impact.
- N93S (p.Asn93Ser), TOPMed rs1667635909, gnomAD rs1667635909, REVEL 0.19, MetaLR 0.34
- N93T (p.Asn93Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L94I (p.Leu94Ile), Ensembl rs2104219832, REVEL 0.61, MetaLR 0.75
- K96E (p.Lys96Glu), 1000Genomes rs555904948, ExAC rs555904948, gnomAD rs555904948, REVEL 0.11, MetaLR 0.10
- K96N (p.Lys96Asn), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58625, MetaLR 0.21, MetaSVM -0.80, Variant assessed as somatic; moderate impact.
- H98D (p.His98Asp), gnomAD rs1384040967, REVEL 0.47, MetaLR 0.44
- H98L (p.His98Leu), ESP rs377550562, ExAC rs377550562, TOPMed rs377550562, gnomAD rs377550562, MetaLR 0.44, MetaSVM -0.28
- H98R (p.His98Arg), ESP rs377550562, ExAC rs377550562, TOPMed rs377550562, gnomAD rs377550562, REVEL 0.32, MetaLR 0.36
- E99K (p.Glu99Lys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, Variant assessed as somatic; moderate impact.
- E99V (p.Glu99Val), Ensembl rs1667635531, MetaLR 0.67, MetaSVM 0.31
- I100V (p.Ile100Val), Ensembl rs1446811467
- R101K (p.Arg101Lys), cosmic curated COSV58630, TOPMed rs1667532675, REVEL 0.38, MetaLR 0.49
- R101T (p.Arg101Thr), NCI-TCGA Cosmic COSV5861, cosmic curated COSV58617, NCI-TCGA Cosmic COSV5863, REVEL 0.37, MetaLR 0.46, Variant assessed as somatic; moderate impact.
- I102F (p.Ile102Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I102M (p.Ile102Met), gnomAD rs1667532495, MetaLR 0.35, MetaSVM -0.41
- I102V (p.Ile102Val), ExAC rs775769692, gnomAD rs775769692, REVEL 0.26, MetaLR 0.35
- K104T (p.Lys104Thr), gnomAD rs1282685031
- A105S (p.Ala105Ser), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10043, MetaLR 0.68, MetaSVM 0.41, Variant assessed as somatic; moderate impact.
- N106T (p.Asn106Thr), NCI-TCGA Cosmic COSV5863, MetaLR 0.58, MetaSVM 0.20, Variant assessed as somatic; moderate impact.
- N107S (p.Asn107Ser), TOPMed rs1336738341, gnomAD rs1336738341, REVEL 0.21, MetaLR 0.37
- L108M (p.Leu108Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L109V (p.Leu109Val), 1000Genomes rs138344938, ExAC rs138344938, TOPMed rs138344938, gnomAD rs138344938, REVEL 0.11, MetaLR 0.13
- Y110H (p.Tyr110His), rs771137333, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58623, ExAC rs771137333, REVEL 0.05, MetaLR 0.09, Variant assessed as somatic; moderate impact.
- I111M (p.Ile111Met), ExAC rs774057514, TOPMed rs774057514, gnomAD rs774057514, REVEL 0.40, MetaLR 0.38
- N112H (p.Asn112His), ExAC rs201909194, gnomAD rs201909194, REVEL 0.23, MetaLR 0.09
- N112K (p.Asn112Lys), Ensembl rs1028910072, MetaLR 0.03, MetaSVM -1.11
Public FSHR analysis runs
- FSHR analysis run — FSHR (1,542 variants) — completed 2026-08-18