C43C (p.Cys43Cys) variant of COL6A2 (Collagen alpha-2(VI) chain)
C43C (p.Cys43Cys) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C43C (p.Cys43Cys) variant details
- p.Cys43Cys
- rs755324001
- gnomAD 21-46111992-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 9.25
- Population evidence available
- Structural context available
- Literature evidence available