A48S (p.Ala48Ser) variant of FGFR4 (P22455)
A48S (p.Ala48Ser) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- gnomAD 5-177090440-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.17
- CADD 14.40
- PolyPhen-2 0.05
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available