Q49E (p.Gln49Glu) variant of POLG (DNA polymerase subunit gamma-1)
Q49E (p.Gln49Glu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- rs200132079
- ClinGen CA7725187
- ClinVar RCV001523583
- ExAC rs200132079
- Benign
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.34
- CADD 0.16
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Benign (Progressive sclerosing poliodystrophy)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.011)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)