G1051W (p.Gly1051Trp) variant of POLG (DNA polymerase subunit gamma-1)
G1051W (p.Gly1051Trp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G1051W (p.Gly1051Trp) variant details
- p.Gly1051Trp
- rs121918049
- ClinGen CA7724223
- ClinVar RCV001121336
- ClinVar RCV001856597
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in SANDO)
- UniProt: Pathogenic (in SANDO)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Mitochondrial Neurogastrointestinal Encephalopathy Disease. (PMID 20301358)
- Cited in: POLG-Related Disorders. (PMID 20301791)