H102Y (p.His102Tyr) variant of SDHD (O14521)
H102Y (p.His102Tyr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
H102Y (p.His102Tyr) variant details
- p.His102Tyr
- rs786202403
- ClinGen CA382617413
- ClinVar RCV002240202
- ClinVar RCV002445259
- Pathogenic/Likely pathogenic
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.90
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- 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)