R46* (p.Arg46Ter) variant of KRT9 (Keratin, type I cytoskeletal 9)
R46* (p.Arg46Ter) in KRT9 (Keratin, type I cytoskeletal 9) is a protein-truncating change. 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.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- 1000Genomes rs546893755
- ExAC rs546893755
- gnomAD rs546893755
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 33.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available