H102P (p.His102Pro) variant of SDHD (O14521)
H102P (p.His102Pro) 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; Cowden syndrome 3; Paragangliomas with sensorineural hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
H102P (p.His102Pro) variant details
- p.His102Pro
- rs104894302
- ClinGen CA382617414
- ClinVar RCV002241296
- ClinVar RCV005268977
- Pathogenic/Likely pathogenic
- Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensorineural hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.76
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma; Cowden syndrome 3; Paragangliomas with sensori)
- 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)