D1184N (p.Asp1184Asn) variant of POLG (DNA polymerase subunit gamma-1)
D1184N (p.Asp1184Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D1184N (p.Asp1184Asn) variant details
- p.Asp1184Asn
- rs1131691575
- ClinGen CA393747667
- ClinVar RCV000493626
- ClinVar RCV000508838
- Pathogenic
- Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial disease)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a… (PMID 16401742)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)