G44G (p.Gly44Gly) variant of CDC73 (Parafibromin)
G44G (p.Gly44Gly) in CDC73 (Parafibromin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G44G (p.Gly44Gly) variant details
- p.Gly44Gly
- gnomAD 1-193125112-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available