V56A (p.Val56Ala) variant of IL1RN (P18510)
V56A (p.Val56Ala) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- gnomAD 2-113129626-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.16
- MetaLR 0.07
- MetaSVM -1.09
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available