Q49K (p.Gln49Lys) variant of NFKB1 (P19838)
Q49K (p.Gln49Lys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- gnomAD 4-102533874-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.45
- CADD 25.40
- PolyPhen-2 0.66
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available