R69* (p.Arg69Ter) variant of KRT4 (Keratin, type II cytoskeletal 4)
R69* (p.Arg69Ter) in KRT4 (Keratin, type II cytoskeletal 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R69* (p.Arg69Ter) variant details
- p.Arg69Ter
- 1000Genomes rs200860840
- ESP rs200860840
- ExAC rs200860840
- TOPMed rs200860840
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available