R40W (p.Arg40Trp) variant of POLG (DNA polymerase subunit gamma-1)
R40W (p.Arg40Trp) 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 0.28 / 1. The record also includes population frequency data and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs1452716613
- TOPMed rs1452716613
- gnomAD rs1452716613
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.27
- CADD 20.50
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available