P53L (p.Pro53Leu) variant of SDHAF2 (Q9NX18)
P53L (p.Pro53Leu) 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; not provided; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs562958122
- ClinGen CA017313
- ClinVar RCV001216373
- ClinVar RCV002399667
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.58
- AlphaMissense 0.51
- MetaLR 0.61
- MetaSVM 0.26
- CADD 27.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)