K6* (p.Lys6Ter) variant of COL17A1 (Collagen alpha-1(XVII) chain)
K6* (p.Lys6Ter) in COL17A1 (Collagen alpha-1(XVII) chain) 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.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- gnomAD rs1260149025
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 37.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available