L25L (p.Leu25Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
L25L (p.Leu25Leu) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L25L (p.Leu25Leu) variant details
- p.Leu25Leu
- gnomAD 7-94397750-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available