G888D (p.Gly888Asp) variant of POLG (DNA polymerase subunit gamma-1)
G888D (p.Gly888Asp) 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 POLG-related disorder; Mitochondrial disease; Progressive sclerosing poliodystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G888D (p.Gly888Asp) variant details
- p.Gly888Asp
- rs878854560
- ClinGen CA10583269
- ClinVar RCV000227514
- ClinVar RCV004786619
- Pathogenic/Likely pathogenic
- POLG-related disorder; Mitochondrial disease; Progressive sclerosing poliodystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Mitochondrial disease; Progressive sclero)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Primary Mitochondrial Disorders Overview. (PMID 20301403)
- Cited in: Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. (PMID 25503498)