Q60K (p.Gln60Lys) variant of POLG (DNA polymerase subunit gamma-1)
Q60K (p.Gln60Lys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q60K (p.Gln60Lys) variant details
- p.Gln60Lys
- rs780379693
- ClinGen CA7725167
- ClinVar RCV001235892
- ExAC rs780379693
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.13
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)