Y46* (p.Tyr46Ter) variant of KRT16 (Keratin, type I cytoskeletal 16)
Y46* (p.Tyr46Ter) in KRT16 (Keratin, type I cytoskeletal 16) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y46* (p.Tyr46Ter) variant details
- p.Tyr46Ter
- 1000Genomes rs377057928
- ESP rs377057928
- ExAC rs377057928
- TOPMed rs377057928
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available