H127R (p.His127Arg) variant of SDHC (Q99643)
H127R (p.His127Arg) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Gastrointestinal st. 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.
H127R (p.His127Arg) variant details
- p.His127Arg
- rs786203457
- ClinGen CA011435
- ClinVar RCV000166772
- ClinVar RCV000478217
- Uncertain significance
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)