G6D (p.Gly6Asp) variant of SDHA (P31040)
G6D (p.Gly6Asp) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- rs187964306
- ClinGen CA358571
- cosmic curated COSV10729
- ClinVar RCV000216190
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.0445
- REVEL 0.03
- CADD 1.30
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.034)
- 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)