A14D (p.Ala14Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A14D (p.Ala14Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 21-45981891-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.60
- MetaLR 0.55
- MetaSVM -0.32
- CADD 22.50
- PolyPhen-2 0.76
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available