G11S (p.Gly11Ser) variant of POLG (DNA polymerase subunit gamma-1)
G11S (p.Gly11Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs764055826
- ClinGen CA7725213
- ClinVar RCV000758320
- ExAC rs764055826
- Likely benign
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.19
- CADD 9.97
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Likely benign (Progressive sclerosing poliodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)