W25L (p.Trp25Leu) variant of POLG (DNA polymerase subunit gamma-1)
W25L (p.Trp25Leu) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
W25L (p.Trp25Leu) variant details
- p.Trp25Leu
- rs1157410900
- ClinGen CA393774961
- ClinVar RCV002296789
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)