G8C (p.Gly8Cys) variant of NFKB2 (Q00653)
G8C (p.Gly8Cys) 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.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- TOPMed rs922475027
- gnomAD rs922475027
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available