K8* (p.Lys8Ter) variant of COL5A1 (Collagen alpha-1(V) chain)
K8* (p.Lys8Ter) in COL5A1 (Collagen alpha-1(V) 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, published literature, and structural context.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- gnomAD 9-134642209-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available