E113* (p.Glu113Ter) variant of KRT8 (Keratin, type II cytoskeletal 8)
E113* (p.Glu113Ter) in KRT8 (Keratin, type II cytoskeletal 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data.
E113* (p.Glu113Ter) variant details
- p.Glu113Ter
- Ensembl rs2120564730
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- CADD 41.00
- Population evidence available