A12D (p.Ala12Asp) variant of IL1R1 (Interleukin-1 receptor type 1)
A12D (p.Ala12Asp) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 2-102157759-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.19
- CADD 16.10
- PolyPhen-2 0.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available