M48L (p.Met48Leu) variant of IL4R (P24394)
M48L (p.Met48Leu) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M48L (p.Met48Leu) variant details
- p.Met48Leu
- gnomAD 16-27342192-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -0.98
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available