G30C (p.Gly30Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
G30C (p.Gly30Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- ExAC rs757451961
- TOPMed rs757451961
- gnomAD rs757451961
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.16
- Population evidence available
- Structural context available