K47E (p.Lys47Glu) variant of CDC73 (Parafibromin)
K47E (p.Lys47Glu) 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.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD 1-193125119-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.64
- MetaLR 0.70
- MetaSVM 0.44
- CADD 28.40
- PolyPhen-2 0.92
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available