M48V (p.Met48Val) variant of IL4R (P24394)
M48V (p.Met48Val) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- ExAC rs780462972
- gnomAD rs780462972
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- CADD 15.60
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available