D37E (p.Asp37Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
D37E (p.Asp37Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- gnomAD 21-45982647-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.75
- MetaLR 0.97
- MetaSVM 1.01
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available