P51S (p.Pro51Ser) variant of SDHAF2 (Q9NX18)
P51S (p.Pro51Ser) 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 0.42 / 1. The record also includes published literature and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs1862010801
- ClinGen CA380683351
- ClinVar RCV001318585
- ClinVar RCV004671336
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.25
- MetaLR 0.40
- MetaSVM -0.40
- PolyPhen-2 0.18
- SIFT 0.06
- EVE 0.22
- ClinVar: Uncertain significance (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)