R41Q (p.Arg41Gln) variant of POLG (DNA polymerase subunit gamma-1)
R41Q (p.Arg41Gln) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs556175571
- ClinGen CA7725203
- cosmic curated COSV51522
- ClinVar RCV000676335
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.20
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)