P53T (p.Pro53Thr) variant of SDHAF2 (Q9NX18)
P53T (p.Pro53Thr) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
P53T (p.Pro53Thr) variant details
- p.Pro53Thr
- rs1060503390
- ClinGen CA380683382
- ClinVar RCV001300202
- ClinVar RCV005271126
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.85
- MetaLR 0.57
- MetaSVM 0.13
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.40
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- 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)