C381R (p.Cys381Arg) variant of FGFR1 (P11362)
C381R (p.Cys381Arg) 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; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
C381R (p.Cys381Arg) variant details
- p.Cys381Arg
- rs121909634
- ClinGen CA126356
- ClinVar RCV000017682
- ClinVar RCV002254904
- Pathogenic/Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (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: Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. (PMID 16470795)