T5I (p.Thr5Ile) variant of SDHAF2 (Q9NX18)
T5I (p.Thr5Ile) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs1861837207
- ClinGen CA380680138
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10007
- Uncertain significance
- not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.14
- MetaLR 0.36
- MetaSVM -0.76
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.30
- ClinVar: Uncertain significance (not provided; Hereditary pheochromocytoma and paraganglioma; Her)
- 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)