R14G (p.Arg14Gly) variant of SDHA (P31040)
R14G (p.Arg14Gly) 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; Mitochondrial complex II deficiency, nu. 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.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs1192077362
- ClinGen CA359007364
- cosmic curated COSV53769
- ClinVar RCV001248215
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.22
- CADD 16.70
- PolyPhen-2 0.16
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- 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)