E2Q (p.Glu2Gln) variant of IL1RN (P18510)
E2Q (p.Glu2Gln) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- gnomAD 2-113127628-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.05
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available