G8S (p.Gly8Ser) variant of NFKB2 (Q00653)
G8S (p.Gly8Ser) in NFKB2 (Q00653) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- TOPMed rs922475027
- gnomAD rs922475027
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available