S8P (p.Ser8Pro) variant of SDHA (P31040)
S8P (p.Ser8Pro) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Dystonia, early-onset, and/or spastic p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- rs768328967
- ClinGen CA3172687
- ClinVar RCV001041680
- ClinVar RCV004659303
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Dystonia, early-onset, and/or spastic p
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Dystonia, early-onset,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- 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)