S305R (p.Ser305Arg) variant of POLG (DNA polymerase subunit gamma-1)
S305R (p.Ser305Arg) 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 Inborn genetic diseases; not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S305R (p.Ser305Arg) variant details
- p.Ser305Arg
- rs769410130
- ClinGen CA316819
- ClinVar RCV000188649
- ClinVar RCV000758271
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.69
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Progressive sclerosing po)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Alpers syndrome with mutations in POLG: clinical and investigative features. (PMID 22000311)
- Cited in: The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. (PMID 26095671)