R5Q (p.Arg5Gln) variant of SDHA (P31040)
R5Q (p.Arg5Gln) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs779027774
- ClinGen CA3172683
- cosmic curated COSV10960
- ClinVar RCV000691271
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)