R15* (p.Arg15Ter) variant of KEAP1 (Q14145)
R15* (p.Arg15Ter) in KEAP1 (Q14145) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- cosmic curated COSV50648
- ExAC rs764282924
- TOPMed rs764282924
- gnomAD rs764282924
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 33.00
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available