L7R (p.Leu7Arg) variant of SDHD (O14521)
L7R (p.Leu7Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs1865619523
- ClinGen CA382616670
- ClinVar RCV002241255
- ClinVar RCV006256305
- Uncertain significance
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.67
- AlphaMissense 0.13
- MetaLR 0.91
- MetaSVM 0.96
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)