E53E (p.Glu53Glu) variant of CDC73 (Parafibromin)
E53E (p.Glu53Glu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs2103113918
- gnomAD 1-193125139-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 9.35
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available