Y41D (p.Tyr41Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
Y41D (p.Tyr41Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y41D (p.Tyr41Asp) variant details
- p.Tyr41Asp
- Ensembl rs1592239128
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.87
- CADD 28.10
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available