A19G (p.Ala19Gly) variant of SDHA (P31040)
A19G (p.Ala19Gly) 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 0.33 / 1. The record also includes published literature and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs2126522773
- ClinGen CA359007442
- ClinVar RCV002030327
- ClinVar RCV004043271
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.41
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)