F25S (p.Phe25Ser) variant of FGFR2 (P21802)
F25S (p.Phe25Ser) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- Ensembl rs2135483445
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.39
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available