Q128* (p.Gln128Ter) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q128* (p.Gln128Ter) in KRT8 (Keratin, type II cytoskeletal 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
Q128* (p.Gln128Ter) variant details
- p.Gln128Ter
- cosmic curated COSV99510
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 37.00
- Population evidence available