H127N (p.His127Asn) variant of SDHC (Q99643)
H127N (p.His127Asn) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H127N (p.His127Asn) variant details
- p.His127Asn
- rs1485675090
- ClinGen CA343456683
- ClinVar RCV001217901
- ClinVar RCV001751410
- Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.87
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- 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)