E37* (p.Glu37Ter) variant of KEAP1 (Q14145)
E37* (p.Glu37Ter) in KEAP1 (Q14145) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E37* (p.Glu37Ter) variant details
- p.Glu37Ter
- cosmic curated COSV10876
- Ensembl rs2144630375
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 37.00
- Population evidence available
- Structural context available