R33L (p.Arg33Leu) variant of SDHAF2 (Q9NX18)
R33L (p.Arg33Leu) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- rs777442412
- ClinGen CA380683038
- ClinVar RCV000800389
- ClinVar RCV001019878
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.17
- MetaLR 0.43
- MetaSVM -0.30
- PolyPhen-2 0.60
- SIFT 0.06
- EVE 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)