Q5* (p.Gln5Ter) variant of KRT4 (Keratin, type II cytoskeletal 4)
Q5* (p.Gln5Ter) in KRT4 (Keratin, type II cytoskeletal 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- ExAC rs762899018
- TOPMed rs762899018
- gnomAD rs762899018
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 37.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available