V43A (p.Val43Ala) variant of IL1RN (P18510)
V43A (p.Val43Ala) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- gnomAD 2-113129587-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -0.94
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available