S8W (p.Ser8Trp) variant of SDHA (P31040)
S8W (p.Ser8Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S8W (p.Ser8Trp) variant details
- p.Ser8Trp
- rs878854631
- ClinGen CA10582417
- ClinVar RCV000228753
- ClinVar RCV001762532
- Uncertain significance
- Neurodegeneration with ataxia and late-onset optic atrophy; Mitochondrial comple
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.24
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Neurodegeneration with ataxia and late-onset optic atrophy; Mito)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)