P52H (p.Pro52His) variant of FGFR4 (P22455)
P52H (p.Pro52His) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- gnomAD 5-177090453-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.53
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available