A30P (p.Ala30Pro) variant of SNCA (Alpha-synuclein)
A30P (p.Ala30Pro) in SNCA (Alpha-synuclein) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations 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 0.81 / 1. The record also includes experimental measurements and published literature.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- rs104893878
- Conflicting interpretations
- Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant P
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Conflicting classifications of pathogenicity (Lewy body dementia; Autosomal dominant Parkinson disease 1; Auto)
- UniProt: Conflicting interpretations (in PARK1)
- Deep Mutational Scanning of alpha-Synuclein based on Toxicity in Yeast Treated w: score 0.111
- Cited in: Yeast reveal a "druggable" Rsp5/Nedd4 network that ameliorates α-synuclein toxicity in neurons. (PMID 24158909)
- Cited in: Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons. (PMID 24158904)