E48G (p.Glu48Gly) variant of CDC73 (Parafibromin)
E48G (p.Glu48Gly) in CDC73 (Parafibromin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- NCI-TCGA Cosmic COSV6646
- cosmic curated COSV66467
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.50
- MetaSVM 0.06
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available