L136* (p.Leu136Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
L136* (p.Leu136Ter) in KRT12 (Keratin, type I cytoskeletal 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L136* (p.Leu136Ter) variant details
- p.Leu136Ter
- ExAC rs761525290
- TOPMed rs761525290
- gnomAD rs761525290
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 36.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available