T30I (p.Thr30Ile) variant of SDHA (P31040)
T30I (p.Thr30Ile) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs1560985157
- ClinGen CA359008115
- ClinVar RCV000699826
- ClinVar RCV002369914
- Conflicting interpretations
- Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.14
- MetaLR 0.25
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.44
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency,)
- 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)