G773S (p.Gly773Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G773S (p.Gly773Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Fetal anomalies with a likely genetic cause. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G773S (p.Gly773Ser) variant details
- p.Gly773Ser
- Ensembl rs72651659
- Pathogenic
- Fetal anomalies with a likely genetic cause
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Pathogenic (Fetal anomalies with a likely genetic cause)
- UniProt: Pathogenic (in OI2)
- Structural context available