S64L (p.Ser64Leu) variant of POLG (DNA polymerase subunit gamma-1)
S64L (p.Ser64Leu) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S64L (p.Ser64Leu) variant details
- p.Ser64Leu
- rs1397887879
- ClinGen CA393773758
- ClinVar RCV003100461
- TOPMed rs1397887879
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.01
- 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 6.3e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)