R227W (p.Arg227Trp) variant of POLG (DNA polymerase subunit gamma-1)
R227W (p.Arg227Trp) 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 Abnormality of corpus callosum; Mitochondrial DNA depletion syndrome; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R227W (p.Arg227Trp) variant details
- p.Arg227Trp
- rs121918056
- ClinGen CA123154
- ClinVar RCV000014469
- ClinVar RCV000255169
- Pathogenic/Likely pathogenic
- Abnormality of corpus callosum; Mitochondrial DNA depletion syndrome; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Abnormality of corpus callosum; Mitochondrial DNA depletion synd)
- EBI: Pathogenic (in PEOB1 and MTDPS4B)
- UniProt: Pathogenic (in PEOB1 and MTDPS4B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (PMID 12707443)
- Cited in: Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the… (PMID 15349879)