L80R (p.Leu80Arg) variant of SDHD (O14521)
L80R (p.Leu80Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L80R (p.Leu80Arg) variant details
- p.Leu80Arg
- rs1555187010
- ClinGen CA382617293
- ClinVar RCV000505381
- ClinVar RCV001857228
- Pathogenic
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.17
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)