L21P (p.Leu21Pro) variant of SDHD (O14521)
L21P (p.Leu21Pro) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom. The record also includes published literature and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs2498899441
- ClinGen CA382616923
- ClinVar RCV003027948
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)