R589Q (p.Arg589Gln) variant of SDHA (P31040)
R589Q (p.Arg589Gln) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R589Q (p.Arg589Gln) variant details
- p.Arg589Gln
- rs763766162
- ClinGen CA3173350
- NCI-TCGA Cosmic COSV5376
- cosmic curated COSV53766
- Conflicting interpretations
- Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency,)
- EBI: Likely pathogenic (in PPGL5)
- UniProt: Likely pathogenic (in PPGL5)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)