D930N (p.Asp930Asn) variant of POLG (DNA polymerase subunit gamma-1)
D930N (p.Asp930Asn) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D930N (p.Asp930Asn) variant details
- p.Asp930Asn
- rs2055386406
- ClinGen CA393753119
- ClinVar RCV003516367
- TOPMed rs2055386406
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.84
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)