Q49R (p.Gln49Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q49R (p.Gln49Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- TOPMed rs1327144196
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.29
- CADD 3.90
- PolyPhen-2 0.07
- SIFT 0.52
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available