A19T (p.Ala19Thr) variant of SDHA (P31040)
A19T (p.Ala19Thr) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1560980986
- ClinGen CA359007432
- ClinVar RCV000696776
- ClinVar RCV002343493
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.0712
- REVEL 0.03
- CADD 8.71
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.7e-06)
- 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)