Q4* (p.Gln4Ter) variant of KRT3 (Keratin, type II cytoskeletal 3)
Q4* (p.Gln4Ter) in KRT3 (Keratin, type II cytoskeletal 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- ExAC rs746898698
- gnomAD rs746898698
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 37.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available