S239F (p.Ser239Phe) variant of FGFR2 (P21802)
S239F (p.Ser239Phe) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FGFR2-related craniosynostosis; Acrocephalosyndactyly type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S239F (p.Ser239Phe) variant details
- p.Ser239Phe
- ExAC rs780846065
- gnomAD rs780846065
- Uncertain significance
- not provided; FGFR2-related craniosynostosis; Acrocephalosyndactyly type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available