A48D (p.Ala48Asp) variant of FGFR4 (P22455)
A48D (p.Ala48Asp) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- 1000Genomes rs201142834
- ExAC rs201142834
- gnomAD rs201142834
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available