G6S (p.Gly6Ser) variant of SDHA (P31040)
G6S (p.Gly6Ser) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs1352756438
- ClinGen CA359007280
- NCI-TCGA Cosmic COSV9937
- cosmic curated COSV99372
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.03
- AlphaMissense 0.26
- MetaLR 0.08
- MetaSVM -1.00
- CADD 4.43
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)