G1051E (p.Gly1051Glu) variant of POLG (DNA polymerase subunit gamma-1)
G1051E (p.Gly1051Glu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G1051E (p.Gly1051Glu) variant details
- p.Gly1051Glu
- rs775248939
- ClinGen CA393750991
- ClinVar RCV001240587
- ExAC rs775248939
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.26
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.57
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in SANDO)
- UniProt: Likely pathogenic (in SANDO)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)