E3K (p.Glu3Lys) variant of NFKB1 (P19838)
E3K (p.Glu3Lys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs1740854006
- gnomAD 4-102525525-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.11
- CADD 24.60
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available