L12L (p.Leu12Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
L12L (p.Leu12Leu) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs766918040
- gnomAD 7-94395065-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available