S29C (p.Ser29Cys) variant of POLG (DNA polymerase subunit gamma-1)
S29C (p.Ser29Cys) 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 external ophthalmoplegia with mitochondrial DNA deletions, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- rs796052895
- ClinGen CA316744
- ClinVar RCV000712811
- ClinVar RCV002517883
- Uncertain significance
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)