D40V (p.Asp40Val) variant of IL1B (Interleukin-1 beta)
D40V (p.Asp40Val) in IL1B (Interleukin-1 beta) 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.
D40V (p.Asp40Val) variant details
- p.Asp40Val
- gnomAD 2-112833556-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.77
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available