Y47C (p.Tyr47Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
Y47C (p.Tyr47Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- TOPMed rs1907936667
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available