R12* (p.Arg12Ter) variant of KRT1 (Keratin, type II cytoskeletal 1)
R12* (p.Arg12Ter) in KRT1 (Keratin, type II cytoskeletal 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R12* (p.Arg12Ter) variant details
- p.Arg12Ter
- gnomAD rs1197654607
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available