M1T (p.Met1Thr) variant of SDHAF2 (Q9NX18)
M1T (p.Met1Thr) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1060503392
- ClinGen CA16613424
- ClinVar RCV000469697
- ClinVar RCV001017953
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- MetaLR 0.52
- MetaSVM -0.39
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 2; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)