S80C (p.Ser80Cys) variant of NFKB1 (P19838)
S80C (p.Ser80Cys) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S80C (p.Ser80Cys) variant details
- p.Ser80Cys
- rs1300115442
- gnomAD 4-102537940-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.35
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available