R1138C (p.Arg1138Cys) variant of POLG (DNA polymerase subunit gamma-1)
R1138C (p.Arg1138Cys) 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; not specified; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R1138C (p.Arg1138Cys) variant details
- p.Arg1138Cys
- rs767138032
- ClinGen CA7724146
- NCI-TCGA Cosmic COSV9917
- cosmic curated COSV99174
- Conflicting interpretations
- not provided; not specified; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Progressive sclerosing poliodystrop)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)