L12L (p.Leu12Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L12L (p.Leu12Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1273801694
- gnomAD 21-45981884-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 11.70
- Population evidence available
- Structural context available
- Literature evidence available