S9* (p.Ser9Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
S9* (p.Ser9Ter) in KRT12 (Keratin, type I cytoskeletal 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S9* (p.Ser9Ter) variant details
- p.Ser9Ter
- ExAC rs780056598
- TOPMed rs780056598
- gnomAD rs780056598
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 35.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available