S20C (p.Ser20Cys) variant of NFKB1 (P19838)
S20C (p.Ser20Cys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- rs370685242
- gnomAD 4-102529855-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.18
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available