K161N (p.Lys161Asn) variant of PRKN (O60260)
K161N (p.Lys161Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K161N (p.Lys161Asn) variant details
- p.Lys161Asn
- rs137853057
- gnomAD rs137853057
- ClinGen CA254083
- ClinVar RCV000007459
- Pathogenic
- Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.76
- CADD 23.70
- SIFT 0.46
- ClinVar: Pathogenic (Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.966
- Cited in: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French… (PMID 10072423)
- Cited in: Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID 10824074)