A88V (p.Ala88Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A88V (p.Ala88Val) 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.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- Ensembl rs2138832870
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- MetaLR 0.32
- MetaSVM -0.67
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available