R3P (p.Arg3Pro) variant of POLG (DNA polymerase subunit gamma-1)
R3P (p.Arg3Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs121918045
- ClinGen CA256885
- ClinVar RCV000014445
- UniProt VAR 012153
- Pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.65
- CADD 26.80
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Pathogenic (in PEOB1 and SANDO)
- UniProt: Pathogenic (in PEOB1 and SANDO)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)
- Cited in: Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with… (PMID 12565911)