G47R (p.Gly47Arg) variant of PRKN (O60260)
G47R (p.Gly47Arg) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- TOPMed rs1242294277
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.391