A1105T (p.Ala1105Thr) variant of POLG (DNA polymerase subunit gamma-1)
A1105T (p.Ala1105Thr) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A1105T (p.Ala1105Thr) variant details
- p.Ala1105Thr
- rs753410045
- UniProt VAR 023688
- ExAC rs753410045
- gnomAD rs753410045
- Uncertain significance
- Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.94
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00013)
- Structural context available
- Cited in: Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic… (PMID 15351195)
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)