G49D (p.Gly49Asp) variant of CDC73 (Parafibromin)
G49D (p.Gly49Asp) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- Ensembl rs2103113902
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- AlphaMissense 0.77
- MetaLR 0.78
- MetaSVM 0.72
- CADD 28.90
- PolyPhen-2 1.00
- Population evidence available
- Structural context available