D930G (p.Asp930Gly) variant of POLG (DNA polymerase subunit gamma-1)
D930G (p.Asp930Gly) 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.
D930G (p.Asp930Gly) variant details
- p.Asp930Gly
- rs2509217554
- ClinGen CA393753111
- ClinVar RCV003514205
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.99
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)