E2V (p.Glu2Val) variant of IL1RN (P18510)
E2V (p.Glu2Val) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- rs749244809
- gnomAD 2-113120081-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- MetaLR 0.05
- MetaSVM -1.02
- CADD 14.10
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available