P1073L (p.Pro1073Leu) variant of POLG (DNA polymerase subunit gamma-1)
P1073L (p.Pro1073Leu) 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; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P1073L (p.Pro1073Leu) variant details
- p.Pro1073Leu
- rs267606959
- ClinGen CA123156
- cosmic curated COSV51522
- ClinVar RCV000014470
- Pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. (PMID 20142534)
- Cited in: POLG-Related Disorders. (PMID 20301791)