D64D (p.Asp64Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
D64D (p.Asp64Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D64D (p.Asp64Asp) variant details
- p.Asp64Asp
- gnomAD 21-46112055-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available