P52L (p.Pro52Leu) variant of FGFR4 (P22455)
P52L (p.Pro52Leu) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD rs1429405481
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available