Q308H (p.Gln308His) variant of POLG (DNA polymerase subunit gamma-1)
Q308H (p.Gln308His) 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 Mitochondrial DNA depletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q308H (p.Gln308His) variant details
- p.Gln308His
- rs745539599
- ClinVar RCV005431581
- UniProt VAR 058875
- ExAC rs745539599
- Likely pathogenic
- Mitochondrial DNA depletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.90
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial DNA depletion syndrome)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (PMID 16621917)
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)