R1096C (p.Arg1096Cys) variant of POLG (DNA polymerase subunit gamma-1)
R1096C (p.Arg1096Cys) 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 disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R1096C (p.Arg1096Cys) variant details
- p.Arg1096Cys
- rs201732356
- ClinGen CA316756
- NCI-TCGA Cosmic COSV9917
- ClinVar RCV000188613
- Likely pathogenic
- Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.84
- AlphaMissense 0.73
- MetaLR 0.88
- MetaSVM 0.88
- CADD 26.00
- PolyPhen-2 0.94
- ClinVar: Likely pathogenic (Mitochondrial disease)
- EBI: Pathogenic (in PEOB1 and MTDPS4A)
- UniProt: Pathogenic (in PEOB1 and MTDPS4A)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (PMID 12707443)
- Cited in: Mitochondrial DNA depletion syndrome causing liver failure. (PMID 25129007)