G67A (p.Gly67Ala) variant of POLG (DNA polymerase subunit gamma-1)
G67A (p.Gly67Ala) 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 Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G67A (p.Gly67Ala) variant details
- p.Gly67Ala
- rs1399456619
- ClinGen CA393773680
- ClinVar RCV001370598
- ClinVar RCV002488166
- Uncertain significance
- Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; Mitochondrial DNA depleti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mitochondrial Neurogastrointestinal Encephalopathy Disease. (PMID 20301358)
- Cited in: POLG-Related Disorders. (PMID 20301791)