T47A (p.Thr47Ala) variant of IL1RN (P18510)
T47A (p.Thr47Ala) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- gnomAD 2-113129598-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -1.03
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available