T313M (p.Thr313Met) variant of PINK1 (Q9BXM7)
T313M (p.Thr313Met) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T313M (p.Thr313Met) variant details
- p.Thr313Met
- rs74315359
- ClinGen CA252276
- ClinVar RCV000002514
- UniProt VAR 046589
- Pathogenic/Likely pathogenic
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.56
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. (PMID 17030667)
- Cited in: Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset… (PMID 18785233)