G6A (p.Gly6Ala) variant of SDHA (P31040)
G6A (p.Gly6Ala) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- rs187964306
- ClinGen CA359007285
- ClinVar RCV001068961
- ClinVar RCV002411605
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.0671
- REVEL 0.06
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.9e-05)
- 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)