G29E (p.Gly29Glu) variant of SDHA (P31040)
G29E (p.Gly29Glu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- rs1436200566
- ClinGen CA359008107
- ClinVar RCV000542539
- ClinVar RCV001018205
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.17
- CADD 2.43
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)