S21* (p.Ser21Ter) variant of KEAP1 (Q14145)
S21* (p.Ser21Ter) in KEAP1 (Q14145) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- cosmic curated COSV50354
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.83
- CADD 35.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available