A48V (p.Ala48Val) variant of FGFR4 (P22455)
A48V (p.Ala48Val) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- 1000Genomes rs201142834
- ExAC rs201142834
- gnomAD rs201142834
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.06
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available