H102R (p.His102Arg) variant of SDHD (O14521)
H102R (p.His102Arg) 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/paraganglioma syndrome 1; Pheochromocytoma; Carney-Stratakis sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H102R (p.His102Arg) variant details
- p.His102Arg
- rs104894302
- ClinGen CA071040
- ClinVar RCV001018360
- ClinVar RCV002538159
- Pathogenic/Likely pathogenic
- Pheochromocytoma/paraganglioma syndrome 1; Pheochromocytoma; Carney-Stratakis sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.93
- AlphaMissense 0.76
- MetaLR 1.00
- MetaSVM 0.85
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma/paraganglioma syndrome 1; Pheochromocytoma; Car)
- EBI: Pathogenic (in PPGL1)
- UniProt: Pathogenic (in PPGL1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)