P648R (p.Pro648Arg) variant of POLG (DNA polymerase subunit gamma-1)
P648R (p.Pro648Arg) 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 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.
P648R (p.Pro648Arg) variant details
- p.Pro648Arg
- rs796052906
- ClinGen CA316854
- ClinVar RCV000188671
- ClinVar RCV000702972
- Pathogenic/Likely pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (PMID 16621917)
- Cited in: SANDO: two novel mutations in POLG1 gene. (PMID 16919951)