T30A (p.Thr30Ala) variant of SDHA (P31040)
T30A (p.Thr30Ala) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- rs2126539529
- ClinGen CA359008110
- ClinVar RCV002040499
- ClinVar RCV004671619
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.57
- MutPred 0.39
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Likely benign
- UniProt: Likely benign
- 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)