R1096G (p.Arg1096Gly) variant of POLG (DNA polymerase subunit gamma-1)
R1096G (p.Arg1096Gly) 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 Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R1096G (p.Arg1096Gly) variant details
- p.Arg1096Gly
- rs201732356
- ClinGen CA316754
- ClinVar RCV000188612
- ClinVar RCV001059624
- Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.73
- MetaLR 0.88
- MetaSVM 0.88
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)