Y33* (p.Tyr33Ter) variant of KEAP1 (Q14145)
Y33* (p.Tyr33Ter) in KEAP1 (Q14145) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- 1000Genomes rs575186517
- ExAC rs575186517
- TOPMed rs575186517
- gnomAD rs575186517
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 33.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available