R250W (p.Arg250Trp) variant of FGFR1 (P11362)
R250W (p.Arg250Trp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.84 / 1. The record also includes published literature and structural context.
R250W (p.Arg250Trp) variant details
- p.Arg250Trp
- rs2150826896
- ClinGen CA370735178
- NCI-TCGA Cosmic COSV5833
- cosmic curated COSV58331
- Pathogenic/Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and… (PMID 16882753)
- Cited in: Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in… (PMID 17154279)