G182V (p.Gly182Val) variant of FGFR2 (P21802)
G182V (p.Gly182Val) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G182V (p.Gly182Val) variant details
- p.Gly182Val
- cosmic curated COSV10740
- TOPMed rs1855386108
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- CADD 19.40
- PolyPhen-2 0.44
- SIFT 0.16
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Crouzon syndrome)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available