L7M (p.Leu7Met) variant of IKBKB (O14920)
L7M (p.Leu7Met) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 8-42272119-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.80
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available