R31Q (p.Arg31Gln) variant of SDHA (P31040)
R31Q (p.Arg31Gln) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs752532780
- ClinGen CA3172716
- ClinVar RCV000225880
- ClinVar RCV000410721
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00017)
- 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)