E1136D (p.Glu1136Asp) variant of POLG (DNA polymerase subunit gamma-1)
E1136D (p.Glu1136Asp) 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 Inborn genetic diseases; Progressive sclerosing poliodystrophy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E1136D (p.Glu1136Asp) variant details
- p.Glu1136Asp
- rs755725702
- ClinGen CA7724148
- ClinVar RCV001206861
- ClinVar RCV001586050
- Conflicting interpretations
- Inborn genetic diseases; Progressive sclerosing poliodystrophy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.93
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Progressive sclerosing poliodystrophy;)
- EBI: Likely pathogenic (in MTDPS4A)
- UniProt: Likely pathogenic (in MTDPS4A)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)