W6S (p.Trp6Ser) variant of POLG (DNA polymerase subunit gamma-1)
W6S (p.Trp6Ser) 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 sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
W6S (p.Trp6Ser) variant details
- p.Trp6Ser
- rs1057524249
- ClinGen CA10602200
- ClinVar RCV000443728
- ClinVar RCV000758292
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.48
- CADD 24.70
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)