L83P (p.Leu83Pro) variant of POLG (DNA polymerase subunit gamma-1)
L83P (p.Leu83Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L83P (p.Leu83Pro) variant details
- p.Leu83Pro
- rs1567194243
- ClinGen CA10602229
- ClinVar RCV000758448
- Ensembl rs1567194243
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- CADD 30.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)