G763R (p.Gly763Arg) variant of POLG (DNA polymerase subunit gamma-1)
G763R (p.Gly763Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal. 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.
G763R (p.Gly763Arg) variant details
- p.Gly763Arg
- rs1567187837
- ClinGen CA393756558
- ClinVar RCV000712793
- ClinVar RCV001796195
- Likely pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)