E17G (p.Glu17Gly) variant of CDC73 (Parafibromin)
E17G (p.Glu17Gly) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 1-193122250-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.45
- MetaLR 0.53
- MetaSVM -0.23
- CADD 26.70
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available