Y955C (p.Tyr955Cys) variant of POLG (DNA polymerase subunit gamma-1)
Y955C (p.Tyr955Cys) 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 Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y955C (p.Tyr955Cys) variant details
- p.Tyr955Cys
- rs113994099
- ClinGen CA341291
- ClinVar RCV000014439
- ClinVar RCV000508934
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic (in PEOA1, PEOB1 and SANDO)
- UniProt: Pathogenic (in PEOA1, PEOB1 and SANDO)
- Population evidence available
- Structural context available
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)
- Cited in: Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone… (PMID 11897778)