H1134Y (p.His1134Tyr) variant of POLG (DNA polymerase subunit gamma-1)
H1134Y (p.His1134Tyr) 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 Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
H1134Y (p.His1134Tyr) variant details
- p.His1134Tyr
- rs2509202643
- ClinGen CA393749807
- ClinVar RCV002740529
- ClinVar RCV005239496
- Likely pathogenic
- Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy; Mitochondrial DNA depleti)
- EBI: Likely pathogenic (in MTDPS4A)
- UniProt: Likely pathogenic (in MTDPS4A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)