A344P (p.Ala344Pro) variant of FGFR2 (P21802)
A344P (p.Ala344Pro) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
A344P (p.Ala344Pro) variant details
- p.Ala344Pro
- rs2134256250
- ClinGen CA378327927
- ClinVar RCV001390280
- UniProt VAR 004141
- Pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS and PS)
- UniProt: Pathogenic (in CS and PS)
- Structural context available
- Cited in: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes… (PMID 8644708)
- Cited in: A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. (PMID 10574673)