P59L (p.Pro59Leu) variant of POLG (DNA polymerase subunit gamma-1)
P59L (p.Pro59Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs1057518590
- ClinGen CA16042908
- cosmic curated COSV51521
- ClinVar RCV000414353
- Uncertain significance
- not specified; Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (not specified; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)