M17V (p.Met17Val) variant of IKBKB (O14920)
M17V (p.Met17Val) 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.
M17V (p.Met17Val) variant details
- p.Met17Val
- gnomAD 8-42272149-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.18
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available