E48V (p.Glu48Val) variant of CDC73 (Parafibromin)
E48V (p.Glu48Val) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E48V (p.Glu48Val) variant details
- p.Glu48Val
- gnomAD 1-193125123-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.64
- MetaLR 0.59
- MetaSVM 0.26
- CADD 33.00
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available