Q115* (p.Gln115Ter) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q115* (p.Gln115Ter) in KRT8 (Keratin, type II cytoskeletal 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data.
Q115* (p.Gln115Ter) variant details
- p.Gln115Ter
- gnomAD rs1384365095
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 43.00
- Most common in the REMAINING population (allele frequency 0.00048)