L69Y (p.Leu69Tyr) variant of NFKB1 (P19838)
L69Y (p.Leu69Tyr) in NFKB1 (P19838) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L69Y (p.Leu69Tyr) variant details
- p.Leu69Tyr
- gnomAD 4-102537904-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 23.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available