S33* (p.Ser33Ter) variant of KRT13 (Keratin, type I cytoskeletal 13)
S33* (p.Ser33Ter) in KRT13 (Keratin, type I cytoskeletal 13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- TOPMed rs1313829910
- gnomAD rs1313829910
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 36.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available