D33Y (p.Asp33Tyr) variant of COL6A1 (Collagen alpha-1(VI) chain)
D33Y (p.Asp33Tyr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- TOPMed rs1310676059
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.72
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available