L18P (p.Leu18Pro) variant of COL1A1 (Collagen alpha-1(I) chain)
L18P (p.Leu18Pro) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- TOPMed rs1908089806
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- ESM-1b 0.00
- AlphaMissense 0.79
- Structural context available