G47E (p.Gly47Glu) variant of PRKN (O60260)
G47E (p.Gly47Glu) in PRKN (O60260) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- TOPMed rs1790152323
- gnomAD rs1790152323
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.89
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.391