D3V (p.Asp3Val) variant of CDC73 (Parafibromin)
D3V (p.Asp3Val) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- TOPMed rs1675462949
- Uncertain significance
- Missense
- MetaLR 0.91
- MetaSVM 1.05
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available