E48E (p.Glu48Glu) variant of CDC73 (Parafibromin)
E48E (p.Glu48Glu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs2103113897
- gnomAD 1-193125124-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.78
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available