P52A (p.Pro52Ala) variant of FGFR4 (P22455)
P52A (p.Pro52Ala) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- gnomAD 5-177090452-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.14
- CADD 9.73
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available