W312R (p.Trp312Arg) variant of POLG (DNA polymerase subunit gamma-1)
W312R (p.Trp312Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W312R (p.Trp312Arg) variant details
- p.Trp312Arg
- UniProt VAR 023666
- Pathogenic/Likely pathogenic
- POLG-related disorder; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (PMID 12707443)
- Cited in: POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. (PMID 14635118)