T24A (p.Thr24Ala) variant of SDHA (P31040)
T24A (p.Thr24Ala) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs1579379632
- ClinGen CA359008073
- ClinVar RCV000816218
- ClinVar RCV003166352
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)