R718C (p.Arg718Cys) variant of FGFR1 (P11362)
R718C (p.Arg718Cys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R718C (p.Arg718Cys) variant details
- p.Arg718Cys
- rs1057520536
- ClinGen CA370728517
- cosmic curated COSV10024
- ClinVar RCV003234721
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)