G4R (p.Gly4Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
G4R (p.Gly4Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 21-46111486-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- CADD 7.83
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available