G135R (p.Gly135Arg) variant of PRKN (O60260)
G135R (p.Gly135Arg) in PRKN (O60260) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G135R (p.Gly135Arg) variant details
- p.Gly135Arg
- 1000Genomes rs201052724
- ExAC rs201052724
- gnomAD rs201052724
- Pathogenic
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.78
- CADD 7.20
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Pathogenic (not provided; Autosomal recessive juvenile Parkinson disease 2)
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.975