R9W (p.Arg9Trp) variant of SDHA (P31040)
R9W (p.Arg9Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs776218604
- ClinGen CA3172688
- ClinVar RCV001225154
- ClinVar RCV005732321
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)