R627W (p.Arg627Trp) variant of POLG (DNA polymerase subunit gamma-1)
R627W (p.Arg627Trp) 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 Mitochondrial DNA depletion syndrome; Autosomal recessive POLG-related disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R627W (p.Arg627Trp) variant details
- p.Arg627Trp
- rs121918046
- ClinGen CA256887
- cosmic curated COSV51520
- ClinVar RCV000014446
- Pathogenic
- Mitochondrial DNA depletion syndrome; Autosomal recessive POLG-related disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; Autosomal recessive POLG-r)
- EBI: Pathogenic (in SANDO)
- UniProt: Pathogenic (in SANDO)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with… (PMID 12565911)
- Cited in: POLG-Related Disorders. (PMID 20301791)