R1096L (p.Arg1096Leu) variant of POLG (DNA polymerase subunit gamma-1)
R1096L (p.Arg1096Leu) 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 not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1096L (p.Arg1096Leu) variant details
- p.Arg1096Leu
- rs368435864
- ClinGen CA316762
- ClinVar RCV000188616
- ClinVar RCV001857637
- Conflicting interpretations
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)