E100G (p.Glu100Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
E100G (p.Glu100Gly) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
E100G (p.Glu100Gly) variant details
- p.Glu100Gly
- Ensembl rs1907891598
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available