L42L (p.Leu42Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L42L (p.Leu42Leu) in COL6A1 (Collagen alpha-1(VI) 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.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs2077714658
- gnomAD 21-45982660-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available