H50Q (p.His50Gln) variant of SNCA (Alpha-synuclein)
H50Q (p.His50Gln) in SNCA (Alpha-synuclein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H50Q (p.His50Gln) variant details
- p.His50Gln
- rs201106962
- Uncertain significance
- Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant P
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.43
- CADD 7.08
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Lewy body dementia; Autosomal dominant Parkinson disease 1; Auto)
- UniProt: Uncertain significance (in PARK1)
- Most common in the REMAINING population (allele frequency 0.00023)
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score -0.003
- Cited in: Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models. (PMID 26341711)
- Cited in: The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. (PMID 24936070)