E46K (p.Glu46Lys) variant of SNCA (Alpha-synuclein)
E46K (p.Glu46Lys) in SNCA (Alpha-synuclein) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Autosomal dominant Parkinson disease 1; Lewy body dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes experimental measurements, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs104893875
- Pathogenic
- Autosomal dominant Parkinson disease 1; Lewy body dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.55
- MetaLR 0.55
- MetaSVM 0.41
- PolyPhen-2 0.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic (Autosomal dominant Parkinson disease 1; Lewy body dementia)
- UniProt: Pathogenic (in PARK1 and DLB)
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score 0
- Cited in: The E46K mutation in alpha-synuclein increases amyloid fibril formation. (PMID 15632170)
- Cited in: Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein. (PMID 15498564)