D51Y (p.Asp51Tyr) variant of COL1A1 (Collagen alpha-1(I) chain)
D51Y (p.Asp51Tyr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- Ensembl rs945028295
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- ESM-1b 1.00
- AlphaMissense 0.87
- Structural context available