N34H (p.Asn34His) variant of IKBKB (O14920)
N34H (p.Asn34His) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N34H (p.Asn34His) variant details
- p.Asn34His
- gnomAD 8-42272200-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -0.99
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available