R40L (p.Arg40Leu) variant of POLG (DNA polymerase subunit gamma-1)
R40L (p.Arg40Leu) 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 Progressive sclerosing poliodystrophy; not provided. The record also includes published literature and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- rs200946722
- ClinGen CA393774633
- ClinVar RCV001509502
- ClinVar RCV001865967
- Uncertain significance
- Progressive sclerosing poliodystrophy; not provided
- Missense
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; not provided)
- 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)