L12P (p.Leu12Pro) variant of SDHAF2 (Q9NX18)
L12P (p.Leu12Pro) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs1590759677
- ClinGen CA380680221
- ClinVar RCV000824143
- ClinVar RCV002453904
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.31
- MetaSVM -0.68
- CADD 22.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)