R2G (p.Arg2Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
R2G (p.Arg2Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- gnomAD 21-45981854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.22
- MetaLR 0.40
- MetaSVM -0.59
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available