Q35H (p.Gln35His) variant of IKBKB (O14920)
Q35H (p.Gln35His) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- gnomAD 8-42272205-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- MetaLR 0.35
- MetaSVM -0.45
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available