D74G (p.Asp74Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
D74G (p.Asp74Gly) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D74G (p.Asp74Gly) variant details
- p.Asp74Gly
- ExAC rs750031645
- TOPMed rs750031645
- gnomAD rs750031645
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.31
- SIFT 0.34
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available