T9A (p.Thr9Ala) variant of SDHAF2 (Q9NX18)
T9A (p.Thr9Ala) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- rs1554983610
- ClinGen CA380680194
- cosmic curated COSV57100
- ClinVar RCV000547322
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- 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)