H30Y (p.His30Tyr) variant of SDHD (O14521)
H30Y (p.His30Tyr) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs561759202
- ClinGen CA071577
- cosmic curated COSV54778
- ClinVar RCV000575014
- Uncertain significance
- Paragangliomas with sensorineural hearing loss; Pheochromocytoma; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.55
- CADD 5.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Paragangliomas with sensorineural hearing loss; Pheochromocytoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)