S114* (p.Ser114Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
S114* (p.Ser114Ter) in KRT12 (Keratin, type I cytoskeletal 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S114* (p.Ser114Ter) variant details
- p.Ser114Ter
- ExAC rs746417734
- TOPMed rs746417734
- gnomAD rs746417734
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 33.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available