G22R (p.Gly22Arg) variant of CDC73 (Parafibromin)
G22R (p.Gly22Arg) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- Ensembl rs1675465013
- Pathogenic
- Missense
- MetaLR 0.59
- MetaSVM 0.22
- SIFT 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available