G12D (p.Gly12Asp) variant of PRKN (O60260)
G12D (p.Gly12Asp) in PRKN (O60260) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions, experimental measurements, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.39
- MetaSVM -0.35
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.702