R54G (p.Arg54Gly) variant of FGFR4 (P22455)
R54G (p.Arg54Gly) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- gnomAD 5-177090458-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.43
- CADD 20.70
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available