R41* (p.Arg41Ter) variant of KRT4 (Keratin, type II cytoskeletal 4)
R41* (p.Arg41Ter) in KRT4 (Keratin, type II cytoskeletal 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R41* (p.Arg41Ter) variant details
- p.Arg41Ter
- ExAC rs781063765
- TOPMed rs781063765
- gnomAD rs781063765
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 35.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available