G46G (p.Gly46Gly) variant of CDC73 (Parafibromin)
G46G (p.Gly46Gly) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G46G (p.Gly46Gly) variant details
- p.Gly46Gly
- rs1572142522
- gnomAD 1-193125118-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 13.90
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available