A28D (p.Ala28Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A28D (p.Ala28Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 21-45981933-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.26
- MetaLR 0.41
- MetaSVM -0.53
- CADD 15.00
- PolyPhen-2 0.35
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available