R627Q (p.Arg627Gln) variant of POLG (DNA polymerase subunit gamma-1)
R627Q (p.Arg627Gln) 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; Autosomal recessive POLG-related disorders; Progressive s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R627Q (p.Arg627Gln) variant details
- p.Arg627Gln
- rs375305567
- ClinGen CA7724669
- ClinVar RCV000503435
- ClinVar RCV000660508
- Pathogenic/Likely pathogenic
- POLG-related disorder; Autosomal recessive POLG-related disorders; Progressive s
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.85
- CADD 26.60
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Autosomal recessive POLG-related disorder)
- EBI: Pathogenic (in SANDO)
- UniProt: Pathogenic (in SANDO)
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an… (PMID 15917273)
- Cited in: POLG-Related Disorders. (PMID 20301791)