S371C (p.Ser371Cys) variant of FGFR3 (P22607)
S371C (p.Ser371Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR3-related chondrodysplasia; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
S371C (p.Ser371Cys) variant details
- p.Ser371Cys
- rs121913484
- ClinGen CA341399
- cosmic curated COSV53390
- ClinVar RCV000017736
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.22
- MetaLR 0.59
- MetaSVM 0.04
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.19
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not specified; not provided)
- EBI: Pathogenic (in KERSEB and TD1)
- UniProt: Pathogenic (in KERSEB and TD1)
- Structural context available
- Cited in: Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. (PMID 15772091)
- Cited in: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. (PMID 7773297)