R7S (p.Arg7Ser) variant of POLG (DNA polymerase subunit gamma-1)
R7S (p.Arg7Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- TOPMed rs1057523280
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available