G237S (p.Gly237Ser) variant of FGFR1 (P11362)
G237S (p.Gly237Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G237S (p.Gly237Ser) variant details
- p.Gly237Ser
- rs121909635
- ClinGen CA257478
- ClinVar RCV000017684
- ClinVar RCV004528116
- Likely pathogenic
- FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic… (PMID 16606836)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)