E42D (p.Glu42Asp) variant of FGFR4 (P22455)
E42D (p.Glu42Asp) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- gnomAD 5-177090424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.12
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available