P51L (p.Pro51Leu) variant of SDHAF2 (Q9NX18)
P51L (p.Pro51Leu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- rs1371376884
- ClinGen CA380683358
- ClinVar RCV001901632
- ClinVar RCV002397880
- Uncertain significance
- not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.43
- MetaLR 0.50
- MetaSVM -0.03
- CADD 26.00
- PolyPhen-2 0.62
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary pheochromocytoma and paraganglioma; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)