I82V (p.Ile82Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
I82V (p.Ile82Val) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- TOPMed rs1459510148
- gnomAD rs1459510148
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.06
- MetaLR 0.37
- MetaSVM -0.53
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available