Q13H (p.Gln13His) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q13H (p.Gln13His) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- gnomAD 21-45981889-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- MetaLR 0.47
- MetaSVM -0.37
- CADD 21.50
- PolyPhen-2 0.65
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available