L129V (p.Leu129Val) variant of IL12B (Interleukin-12 subunit beta)
L129V (p.Leu129Val) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L129V (p.Leu129Val) variant details
- p.Leu129Val
- gnomAD rs1176118104
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 16.70
- PolyPhen-2 0.17
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available