P56L (p.Pro56Leu) variant of POLG (DNA polymerase subunit gamma-1)
P56L (p.Pro56Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs1022612492
- ClinGen CA274566405
- ClinVar RCV002658015
- ClinVar RCV004719267
- Uncertain significance
- Progressive sclerosing poliodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.13
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)