A467T (p.Ala467Thr) variant of POLG (DNA polymerase subunit gamma-1)
A467T (p.Ala467Thr) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial DNA depletion syndrome 4b; Sensory ataxic neuropathy, dysarthria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A467T (p.Ala467Thr) variant details
- p.Ala467Thr
- rs113994095
- ClinGen CA123140
- ClinVar RCV000014440
- ClinVar RCV000014441
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome 4b; Sensory ataxic neuropathy, dysarthria
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome 4b; Sensory ataxic neuropat)
- EBI: Pathogenic (in PEOB1, SANDO, SCAE and MTDPS4A)
- UniProt: Pathogenic (in PEOB1, SANDO, SCAE and MTDPS4A)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)
- Cited in: Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. (PMID 11571332)