L25Y (p.Leu25Tyr) variant of COL1A2 (Collagen alpha-2(I) chain)
L25Y (p.Leu25Tyr) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L25Y (p.Leu25Tyr) variant details
- p.Leu25Tyr
- gnomAD 7-94397748-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available