K35E (p.Lys35Glu) variant of SDHC (Q99643)
K35E (p.Lys35Glu) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; not provided; Pheochromocytoma/pa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- rs746315913
- ClinGen CA045660
- ClinVar RCV001017121
- ClinVar RCV001035296
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; not provided; Pheochromocytoma/pa
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.56
- MetaLR 0.88
- MetaSVM 0.90
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; not provided; Phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)