Q57H (p.Gln57His) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q57H (p.Gln57His) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- Ensembl rs1300321511
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.05
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available