A4D (p.Ala4Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A4D (p.Ala4Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 21-45981861-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.67
- CADD 12.20
- PolyPhen-2 0.07
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available