S24F (p.Ser24Phe) variant of FGFR2 (P21802)
S24F (p.Ser24Phe) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Acrocephalosyndactyly type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- cosmic curated COSV60644
- Ensembl rs2135483581
- Likely pathogenic
- Acrocephalosyndactyly type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- CADD 27.00
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Likely pathogenic (Acrocephalosyndactyly type I)
- UniProt: Likely pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available