L5F (p.Leu5Phe) variant of POLG (DNA polymerase subunit gamma-1)
L5F (p.Leu5Phe) 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 Mitochondrial DNA depletion syndrome 4b; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs761648850
- ClinGen CA7725215
- ClinVar RCV000625941
- ClinVar RCV005091823
- Uncertain significance
- Mitochondrial DNA depletion syndrome 4b; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Mitochondrial DNA depletion syndrome 4b; Progressive sclerosing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)