L12del (p.Leu12del) variant of COL6A1 (Collagen alpha-1(VI) chain)
L12del (p.Leu12del) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L12del (p.Leu12del) variant details
- gnomAD 21-45981877-CCTG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available