H932Y (p.His932Tyr) variant of POLG (DNA polymerase subunit gamma-1)
H932Y (p.His932Tyr) 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; Progressive external ophthalmoplegia with. 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.
H932Y (p.His932Tyr) variant details
- p.His932Tyr
- rs121918048
- ClinGen CA256891
- ClinVar RCV000014454
- ClinVar RCV000758263
- Pathogenic
- Mitochondrial DNA depletion syndrome; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.98
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; Progressive external ophth)
- EBI: Pathogenic (in SANDO and PEOB1)
- UniProt: Pathogenic (in SANDO and PEOB1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. (PMID 14635118)
- Cited in: POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. (PMID 14745080)