E44Q (p.Glu44Gln) variant of FGFR4 (P22455)
E44Q (p.Glu44Gln) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- gnomAD 5-177090428-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available