Y374C (p.Tyr374Cys) variant of FGFR1 (P11362)
Y374C (p.Tyr374Cys) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.59 / 1. The record also includes published literature and structural context.
Y374C (p.Tyr374Cys) variant details
- p.Tyr374Cys
- rs121909631
- ClinGen CA126354
- ClinVar RCV000017679
- UniProt VAR 030993
- Uncertain significance
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.12
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 0.99
- SIFT 0.07
- EVE 0.35
- ClinVar: Uncertain significance (Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffe)
- EBI: Pathogenic (in OGD)
- UniProt: Pathogenic (in OGD)
- Structural context available
- Cited in: Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (PMID 15625620)
- Cited in: Osteoglophonic Dysplasia. (PMID 38648328)