P51L (p.Pro51Leu) variant of IL4R (P24394)
P51L (p.Pro51Leu) in IL4R (P24394) 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.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- gnomAD 16-27342202-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 12.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available