S28R (p.Ser28Arg) variant of POLG (DNA polymerase subunit gamma-1)
S28R (p.Ser28Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- Ensembl rs1567194544
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available