V8V (p.Val8Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
V8V (p.Val8Val) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs753618068
- gnomAD 21-46111500-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 3.70
- Population evidence available
- Structural context available
- Literature evidence available