N59K (p.Asn59Lys) variant of LRRK2 (Q5S007)
N59K (p.Asn59Lys) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- rs150422099
- ClinGen CA6513011
- ClinVar RCV000641027
- ESP rs150422099
- Conflicting interpretations
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)