Q50K (p.Gln50Lys) variant of POLG (DNA polymerase subunit gamma-1)
Q50K (p.Gln50Lys) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- rs752556685
- ClinGen CA7725185
- ClinVar RCV001313758
- ExAC rs752556685
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.31
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)