P56R (p.Pro56Arg) variant of POLG (DNA polymerase subunit gamma-1)
P56R (p.Pro56Arg) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- rs1022612492
- ClinGen CA393773955
- ClinVar RCV000530802
- Ensembl rs1022612492
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.11
- CADD 9.46
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)