D21Y (p.Asp21Tyr) variant of COL6A1 (Collagen alpha-1(VI) chain)
D21Y (p.Asp21Tyr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D21Y (p.Asp21Tyr) variant details
- p.Asp21Tyr
- gnomAD 21-45981911-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- MetaLR 0.52
- MetaSVM 0.07
- CADD 24.00
- PolyPhen-2 0.65
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available