R54S (p.Arg54Ser) variant of FGFR4 (P22455)
R54S (p.Arg54Ser) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- ExAC rs572098218
- gnomAD rs572098218
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available