P42A (p.Pro42Ala) variant of NFKB1 (P19838)
P42A (p.Pro42Ala) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- rs201487209
- gnomAD 4-102533853-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.48
- CADD 24.20
- PolyPhen-2 0.49
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available