V50V (p.Val50Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
V50V (p.Val50Val) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- rs2123614200
- gnomAD 21-46112013-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 9.81
- Population evidence available
- Structural context available
- Literature evidence available