Q48R (p.Gln48Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q48R (p.Gln48Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- rs2141816053
- ClinGen CA393774324
- ClinVar RCV001984925
- Ensembl rs2141816053
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.28
- CADD 4.32
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)