T24R (p.Thr24Arg) variant of SDHA (P31040)
T24R (p.Thr24Arg) 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 0.32 / 1. The record also includes published literature and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- rs1196667387
- ClinGen CA359008077
- ClinVar RCV003049788
- ClinVar RCV004068737
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.15
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.48
- 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)