A6D (p.Ala6Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6D (p.Ala6Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 21-45981867-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.19
- MetaLR 0.42
- MetaSVM -0.67
- CADD 9.71
- PolyPhen-2 0.03
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available