W748S (p.Trp748Ser) variant of POLG (DNA polymerase subunit gamma-1)
W748S (p.Trp748Ser) 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 POLG-related disorder; Mitochondrial DNA depletion syndrome 4b; Progressive scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
W748S (p.Trp748Ser) variant details
- p.Trp748Ser
- rs113994097
- ClinGen CA123150
- ClinVar RCV000014459
- ClinVar RCV000014460
- Uncertain significance
- POLG-related disorder; Mitochondrial DNA depletion syndrome 4b; Progressive scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in SANDO, SCAE and MTDPS4A)
- UniProt: Pathogenic (in SANDO, SCAE and MTDPS4A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0064)
- Structural context available
- Cited in: Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. (PMID 11571332)
- Cited in: POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. (PMID 15477547)