G30S (p.Gly30Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
G30S (p.Gly30Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- ExAC rs757451961
- TOPMed rs757451961
- gnomAD rs757451961
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available