A46E (p.Ala46Glu) variant of PRKN (O60260)
A46E (p.Ala46Glu) in PRKN (O60260) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in PARK2. The record also includes experimental measurements and structural context.
A46E (p.Ala46Glu) variant details
- p.Ala46Glu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Variant assessed as somatic; moderate impact.
- in PARK2
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in PARK2)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.619