V20E (p.Val20Glu) variant of IL4R (P24394)
V20E (p.Val20Glu) in IL4R (P24394) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- TOPMed rs1242372941
- gnomAD rs1242372941
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.23
- CADD 16.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available