K8K (p.Lys8Lys) variant of COL5A1 (Collagen alpha-1(V) chain)
K8K (p.Lys8Lys) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- gnomAD 9-134642211-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available