E1136K (p.Glu1136Lys) variant of POLG (DNA polymerase subunit gamma-1)
E1136K (p.Glu1136Lys) 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 maintenance disorder; not provided; Progressive sclerosing pol. 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.
E1136K (p.Glu1136Lys) variant details
- p.Glu1136Lys
- rs56047213
- ClinGen CA316760
- ClinVar RCV000188615
- ClinVar RCV001857636
- Pathogenic/Likely pathogenic
- Mitochondrial DNA maintenance disorder; not provided; Progressive sclerosing pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA maintenance disorder; not provided; Progressiv)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PMID 18828154)
- Cited in: POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. (PMID 15122711)