D104H (p.Asp104His) variant of COL1A1 (Collagen alpha-1(I) chain)
D104H (p.Asp104His) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D104H (p.Asp104His) variant details
- p.Asp104His
- TOPMed rs1262285067
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available