C62* (p.Cys62Ter) variant of KRT16 (Keratin, type I cytoskeletal 16)
C62* (p.Cys62Ter) 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 0.26 / 1. The record also includes population frequency data and structural context.
C62* (p.Cys62Ter) variant details
- p.Cys62Ter
- 1000Genomes rs200450332
- ExAC rs200450332
- TOPMed rs200450332
- gnomAD rs200450332
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 25.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available