G271V (p.Gly271Val) variant of FGFR2 (P21802)
G271V (p.Gly271Val) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, 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 0.92 / 1. The record also includes published literature and structural context.
G271V (p.Gly271Val) variant details
- p.Gly271Val
- rs1564919048
- ClinGen CA378330949
- ClinVar RCV000695392
- ClinVar RCV000856806
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.05
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Crouzon syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)