L9R (p.Leu9Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
L9R (p.Leu9Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- Ensembl rs1908093509
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 0.32
- AlphaMissense 0.57
- Structural context available