G11D (p.Gly11Asp) variant of POLG (DNA polymerase subunit gamma-1)
G11D (p.Gly11Asp) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of POLG-related disorder; Progressive sclerosing poliodystrophy; Sensory ataxic neu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- rs765472726
- ClinGen CA302812
- cosmic curated COSV51524
- ClinVar RCV000633544
- Conflicting interpretations
- POLG-related disorder; Progressive sclerosing poliodystrophy; Sensory ataxic neu
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.45
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (POLG-related disorder; Progressive sclerosing poliodystrophy; Se)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)