Y278C (p.Tyr278Cys) variant of FGFR3 (P22607)
Y278C (p.Tyr278Cys) 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; Short stature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
Y278C (p.Tyr278Cys) variant details
- p.Tyr278Cys
- rs121913115
- ClinGen CA341422
- ClinVar RCV000017768
- ClinVar RCV000415056
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided; Short stature
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.97
- MetaLR 0.44
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided; Short stature)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or… (PMID 16912704)
- Cited in: Hypochondroplasia. (PMID 20301650)