G1051A (p.Gly1051Ala) variant of POLG (DNA polymerase subunit gamma-1)
G1051A (p.Gly1051Ala) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G1051A (p.Gly1051Ala) variant details
- p.Gly1051Ala
- rs775248939
- ClinGen CA7724221
- ClinVar RCV003627485
- ExAC rs775248939
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- AlphaMissense 0.26
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.20
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in SANDO)
- UniProt: Likely pathogenic (in SANDO)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)