S1095R (p.Ser1095Arg) variant of POLG (DNA polymerase subunit gamma-1)
S1095R (p.Ser1095Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of POLG-related disorder; not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S1095R (p.Ser1095Arg) variant details
- p.Ser1095Arg
- rs761649878
- ClinGen CA7724170
- ClinVar RCV000441353
- ClinVar RCV000758419
- Pathogenic/Likely pathogenic
- POLG-related disorder; not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.91
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; not provided; Progressive sclerosing poli)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)