A362S (p.Ala362Ser) variant of FGFR2 (P21802)
A362S (p.Ala362Ser) 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 0.40 / 1. The record also includes published literature and structural context.
A362S (p.Ala362Ser) variant details
- p.Ala362Ser
- rs2134253669
- ClinGen CA378327633
- ClinVar RCV003588492
- cosmic curated COSV60650
- Pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.16
- MetaLR 0.35
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.53
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. (PMID 10574673)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)