S36R (p.Ser36Arg) variant of POLG (DNA polymerase subunit gamma-1)
S36R (p.Ser36Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S36R (p.Ser36Arg) variant details
- p.Ser36Arg
- Ensembl rs1596362804
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.10
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available