D52Y (p.Asp52Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
D52Y (p.Asp52Tyr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D52Y (p.Asp52Tyr) variant details
- p.Asp52Tyr
- gnomAD 21-46112017-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available