R14W (p.Arg14Trp) variant of SDHA (P31040)
R14W (p.Arg14Trp) 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; Neurodegeneration with ataxia and late. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs1192077362
- ClinGen CA359007367
- ClinVar RCV001221686
- ClinVar RCV002322073
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurodegeneration with ataxia and late
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurodegeneration with)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)