C18* (p.Cys18Ter) variant of KRT16 (Keratin, type I cytoskeletal 16)
C18* (p.Cys18Ter) 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 0.28 / 1. The record also includes population frequency data and structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- rs184161015
- ClinGen CA8563371
- ClinVar RCV000900590
- 1000Genomes rs184161015
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 28.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available