N59S (p.Asn59Ser) variant of LRRK2 (Q5S007)
N59S (p.Asn59Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- rs1940831608
- ClinGen CA384399079
- ClinVar RCV002401792
- ClinVar RCV005097744
- Uncertain significance
- Autosomal dominant Parkinson disease 8; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -0.96
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)