Q36R (p.Gln36Arg) variant of SDHD (O14521)
Q36R (p.Gln36Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- rs759143732
- ClinGen CA16613211
- ClinVar RCV001574655
- ClinVar RCV002230193
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.63
- CADD 24.50
- PolyPhen-2 0.25
- SIFT 0.10
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)