S344C (p.Ser344Cys) variant of FGFR3 (P22607)
S344C (p.Ser344Cys) 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; Achondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
S344C (p.Ser344Cys) variant details
- p.Ser344Cys
- rs199702395
- ClinGen CA355978425
- ClinVar RCV002651792
- ClinVar RCV003404135
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided; Achondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.91
- MetaLR 0.32
- MetaSVM -0.39
- PolyPhen-2 0.05
- SIFT 0.09
- EVE 0.37
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided; Achondroplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Achondroplasia. (PMID 20301331)