A133V (p.Ala133Val) variant of IL12B (Interleukin-12 subunit beta)
A133V (p.Ala133Val) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A133V (p.Ala133Val) variant details
- p.Ala133Val
- gnomAD 5-159322478-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.37
- MetaLR 0.22
- MetaSVM -0.79
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available