R42H (p.Arg42His) variant of PRKN (O60260)
R42H (p.Arg42His) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs368134308
- ClinGen CA4090504
- cosmic curated COSV58241
- ClinVar RCV000474986
- Conflicting interpretations
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.57
- MetaLR 0.33
- MetaSVM -0.26
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2 and PARK)
- UniProt: Pathogenic (in PARK2 and PARK)
- Most common in the 1KG:BEB population (allele frequency 0.01)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.499
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)