C56S (p.Cys56Ser) variant of FGFR4 (P22455)
C56S (p.Cys56Ser) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C56S (p.Cys56Ser) variant details
- p.Cys56Ser
- cosmic curated COSV52804
- ESP rs150191035
- ExAC rs150191035
- TOPMed rs150191035
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.41
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.71
- Most common in the Ashkenazi Jewish population (allele frequency 0.0049)
- Structural context available