S354F (p.Ser354Phe) variant of FGFR2 (P21802)
S354F (p.Ser354Phe) 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; FGFR2-related craniosynostosis; Acrocephalosyndactyly type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S354F (p.Ser354Phe) variant details
- p.Ser354Phe
- rs121918490
- ClinGen CA378327681
- ClinVar RCV001377880
- ClinVar RCV002246353
- Pathogenic/Likely pathogenic
- not provided; FGFR2-related craniosynostosis; Acrocephalosyndactyly type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.94
- MetaLR 0.53
- MetaSVM 0.05
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (not provided; FGFR2-related craniosynostosis; Acrocephalosyndact)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)