S29P (p.Ser29Pro) variant of POLG (DNA polymerase subunit gamma-1)
S29P (p.Ser29Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- rs2509277986
- ClinGen CA393774901
- ClinVar RCV003515935
- ClinVar RCV004765915
- Uncertain significance
- Progressive sclerosing poliodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)