E85K (p.Glu85Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E85K (p.Glu85Lys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- TOPMed rs1448839061
- gnomAD rs1448839061
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.66
- MetaLR 0.82
- MetaSVM 0.75
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available