S348C (p.Ser348Cys) variant of FGFR3 (P22607)
S348C (p.Ser348Cys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
S348C (p.Ser348Cys) variant details
- p.Ser348Cys
- rs1044021305
- ClinGen CA355978461
- cosmic curated COSV10807
- ClinVar RCV002052286
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.70
- MetaLR 0.44
- MetaSVM -0.08
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypochondroplasia. (PMID 20301650)