Q44H (p.Gln44His) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q44H (p.Gln44His) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- Ensembl rs2052768011
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.11
- MetaLR 0.27
- MetaSVM -0.69
- CADD 22.70
- PolyPhen-2 0.26
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available