G46R (p.Gly46Arg) variant of CDC73 (Parafibromin)
G46R (p.Gly46Arg) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- gnomAD 1-193125116-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.82
- MetaLR 0.76
- MetaSVM 0.60
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available