S64W (p.Ser64Trp) variant of POLG (DNA polymerase subunit gamma-1)
S64W (p.Ser64Trp) 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 not provided; Progressive external ophthalmoplegia with mitochondrial DNA deleti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S64W (p.Ser64Trp) variant details
- p.Ser64Trp
- rs1397887879
- ClinGen CA10602210
- ClinVar RCV000758444
- ClinVar RCV005010756
- Uncertain significance
- not provided; Progressive external ophthalmoplegia with mitochondrial DNA deleti
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.45
- CADD 29.20
- ClinVar: Uncertain significance (not provided; Progressive external ophthalmoplegia with mitochon)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)