T41I (p.Thr41Ile) variant of SDHAF2 (Q9NX18)
T41I (p.Thr41Ile) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- rs747508289
- ClinGen CA057768
- ClinVar RCV002369185
- ClinVar RCV003776305
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- AlphaMissense 0.13
- MetaLR 0.38
- MetaSVM -0.38
- CADD 18.80
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)