S33C (p.Ser33Cys) variant of POLG (DNA polymerase subunit gamma-1)
S33C (p.Ser33Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- rs796052896
- ClinGen CA316752
- ClinVar RCV000188611
- TOPMed rs796052896
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.22
- CADD 21.10
- PolyPhen-2 0.12
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available