S63F (p.Ser63Phe) variant of POLG (DNA polymerase subunit gamma-1)
S63F (p.Ser63Phe) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- rs960812250
- ClinGen CA274566350
- ClinVar RCV002008375
- TOPMed rs960812250
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)