Q32K (p.Gln32Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q32K (p.Gln32Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q32K (p.Gln32Lys) variant details
- p.Gln32Lys
- gnomAD 21-45981944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.45
- MetaLR 0.73
- MetaSVM 0.38
- CADD 22.70
- PolyPhen-2 0.62
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available