R2W (p.Arg2Trp) variant of FGFR4 (P22455)
R2W (p.Arg2Trp) in FGFR4 (P22455) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- rs545721160
- TOPMed rs545721160
- gnomAD rs545721160
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available