Y308C (p.Tyr308Cys) variant of FGFR2 (P21802)
Y308C (p.Tyr308Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
Y308C (p.Tyr308Cys) variant details
- p.Tyr308Cys
- rs1057519040
- ClinGen CA16043915
- cosmic curated COSV10740
- ClinVar RCV000415502
- Pathogenic/Likely pathogenic
- not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.66
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Crouzon syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)