S80A (p.Ser80Ala) variant of NFKB1 (P19838)
S80A (p.Ser80Ala) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S80A (p.Ser80Ala) variant details
- p.Ser80Ala
- gnomAD 4-102537939-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.15
- CADD 25.20
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available