R31Q (p.Arg31Gln) variant of IKBKB (O14920)
R31Q (p.Arg31Gln) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- gnomAD 8-42272192-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.99
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available