C89Y (p.Cys89Tyr) variant of COL2A1 (Collagen alpha-1(II) chain)
C89Y (p.Cys89Tyr) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C89Y (p.Cys89Tyr) variant details
- p.Cys89Tyr
- Ensembl rs1940152571
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.94
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available