P24L (p.Pro24Leu) variant of SDHAF2 (Q9NX18)
P24L (p.Pro24Leu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 2. The record also includes published literature and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs2540124048
- ClinGen CA380682896
- ClinVar RCV003472631
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 2
- Missense
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)