Q13K (p.Gln13Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q13K (p.Gln13Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- gnomAD 21-45981887-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- MetaLR 0.31
- MetaSVM -0.76
- CADD 17.70
- PolyPhen-2 0.05
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available