L47S (p.Leu47Ser) variant of NFKB1 (P19838)
L47S (p.Leu47Ser) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L47S (p.Leu47Ser) variant details
- p.Leu47Ser
- gnomAD 4-102533869-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available