R254W (p.Arg254Trp) variant of FGFR1 (P11362)
R254W (p.Arg254Trp) 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; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R254W (p.Arg254Trp) variant details
- p.Arg254Trp
- rs2150825999
- ClinGen CA370735158
- cosmic curated COSV58338
- ClinVar RCV003234685
- Pathogenic/Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.65
- PolyPhen-2 0.96
- SIFT 0.03
- EVE 0.43
- ClinVar: Pathogenic/Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)