A53T (p.Ala53Thr) variant of SNCA (Alpha-synuclein)
A53T (p.Ala53Thr) 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; Autosomal dominant P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes experimental measurements, published literature, and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs104893877
- Pathogenic
- Autosomal dominant Parkinson disease 1; Lewy body dementia; Autosomal dominant P
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.05
- MetaLR 0.18
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- ClinVar: Pathogenic (Autosomal dominant Parkinson disease 1; Lewy body dementia; Auto)
- UniProt: Pathogenic (in PARK1)
- Structural context available
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score -0.0206
- Cited in: Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles… (PMID 20340137)
- Cited in: A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. (PMID 19632874)