Q50R (p.Gln50Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q50R (p.Gln50Arg) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- Ensembl rs2052767815
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.04
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the East Asian population (allele frequency 7.7e-05)
- Structural context available