L8M (p.Leu8Met) variant of NFKB1 (P19838)
L8M (p.Leu8Met) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- rs752031846
- gnomAD 4-102525540-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available