R24L (p.Arg24Leu) variant of POLG (DNA polymerase subunit gamma-1)
R24L (p.Arg24Leu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs773375256
- ClinGen CA7725209
- ClinVar RCV003854413
- ExAC rs773375256
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)