P73L (p.Pro73Leu) variant of POLG (DNA polymerase subunit gamma-1)
P73L (p.Pro73Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs199760610
- ClinGen CA274566286
- ClinVar RCV003627612
- TOPMed rs199760610
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- CADD 23.30
- PolyPhen-2 0.36
- SIFT 0.19
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)