G8G (p.Gly8Gly) variant of NFKB2 (Q00653)
G8G (p.Gly8Gly) in NFKB2 (Q00653) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G8G (p.Gly8Gly) variant details
- p.Gly8Gly
- rs1315504895
- gnomAD 10-102396255-T-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 15.30
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available