V359F (p.Val359Phe) variant of FGFR2 (P21802)
V359F (p.Val359Phe) 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 0.92 / 1. The record also includes published literature and structural context.
V359F (p.Val359Phe) variant details
- p.Val359Phe
- rs1274989878
- ClinGen CA378327652
- ClinVar RCV001224644
- UniProt VAR 004146
- Pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS and PS)
- UniProt: Pathogenic (in CS and PS)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes… (PMID 8644708)