p.Leu11 Cys15del variant of COL6A1 (Collagen alpha-1(VI) chain)
p.Leu11 Cys15del in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu11 Cys15del variant details
- gnomAD 21-45981879-TGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available