C42* (p.Cys42Ter) variant of KRT4 (Keratin, type II cytoskeletal 4)
C42* (p.Cys42Ter) in KRT4 (Keratin, type II cytoskeletal 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C42* (p.Cys42Ter) variant details
- p.Cys42Ter
- TOPMed rs1939961410
- gnomAD rs1939961410
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 36.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available