P35L (p.Pro35Leu) variant of POLG (DNA polymerase subunit gamma-1)
P35L (p.Pro35Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs769214289
- ClinGen CA7725206
- ClinVar RCV001992950
- ExAC rs769214289
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)