K211N (p.Lys211Asn) variant of PRKN (O60260)
K211N (p.Lys211Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lung cancer; Ovarian cancer; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K211N (p.Lys211Asn) variant details
- p.Lys211Asn
- rs137853060
- ClinGen CA254087
- ClinVar RCV000007467
- ClinVar RCV001851722
- Pathogenic/Likely pathogenic
- Lung cancer; Ovarian cancer; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lung cancer; Ovarian cancer; Autosomal recessive juvenile Parkin)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.13
- Cited in: Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID 10824074)
- Cited in: Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas… (PMID 11179010)