R54L (p.Arg54Leu) variant of FGFR4 (P22455)
R54L (p.Arg54Leu) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- gnomAD 5-177090459-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.38
- CADD 17.40
- PolyPhen-2 0.15
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available