G49G (p.Gly49Gly) variant of CDC73 (Parafibromin)
G49G (p.Gly49Gly) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G49G (p.Gly49Gly) variant details
- p.Gly49Gly
- rs1310600802
- gnomAD 1-193125127-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 11.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available