V53E (p.Val53Glu) variant of FGFR4 (P22455)
V53E (p.Val53Glu) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V53E (p.Val53Glu) variant details
- p.Val53Glu
- gnomAD rs916468815
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.67
- CADD 26.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available