G375C (p.Gly375Cys) variant of FGFR3 (P22607)
G375C (p.Gly375Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related chondrodysplasia; not provided; Thanatophoric dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G375C (p.Gly375Cys) variant details
- p.Gly375Cys
- rs75790268
- ClinGen CA280219
- ClinVar RCV000017727
- ClinVar RCV002228031
- Pathogenic
- FGFR3-related chondrodysplasia; not provided; Thanatophoric dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.72
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Pathogenic (FGFR3-related chondrodysplasia; not provided; Thanatophoric dysp)
- EBI: Pathogenic (in ACH)
- UniProt: Pathogenic (in ACH)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. (PMID 10587515)
- Cited in: Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in… (PMID 7649548)