T36I (p.Thr36Ile) variant of SDHA (P31040)
T36I (p.Thr36Ile) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- rs1440814662
- ClinGen CA359008161
- cosmic curated COSV10459
- ClinVar RCV000563141
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.18
- CADD 15.10
- PolyPhen-2 0.24
- SIFT 0.08
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)