Y99C (p.Tyr99Cys) variant of FGFR1 (P11362)
Y99C (p.Tyr99Cys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogonad. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
Y99C (p.Tyr99Cys) variant details
- p.Tyr99Cys
- rs727505373
- ClinGen CA185888
- cosmic curated COSV58345
- ClinVar RCV000156961
- Pathogenic/Likely pathogenic
- not provided; Hypogonadotropic hypogonadism 2 with or without anosmia; Hypogonad
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.23
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypogonadotropic hypogonadism 2 with or without an)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (PMID 12627230)
- Cited in: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. (PMID 19820032)