D3E (p.Asp3Glu) variant of CDC73 (Parafibromin)
D3E (p.Asp3Glu) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- ExAC rs746910026
- gnomAD rs746910026
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.84
- MetaLR 0.91
- MetaSVM 1.00
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available