A41V (p.Ala41Val) variant of IL12B (Interleukin-12 subunit beta)
A41V (p.Ala41Val) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- TOPMed rs1251171357
- gnomAD rs1251171357
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.00
- CADD 22.10
- PolyPhen-2 0.42
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available