F88L (p.Phe88Leu) variant of POLG (DNA polymerase subunit gamma-1)
F88L (p.Phe88Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of POLG-related disorder; Progressive sclerosing poliodystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
F88L (p.Phe88Leu) variant details
- p.Phe88Leu
- rs144439703
- ClinGen CA7725145
- ClinVar RCV000431950
- ClinVar RCV000693072
- Pathogenic/Likely pathogenic
- POLG-related disorder; Progressive sclerosing poliodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.75
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Progressive sclerosing poliodystrophy; no)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)