L51L (p.Leu51Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
L51L (p.Leu51Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- gnomAD 21-46112016-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available