K40N (p.Lys40Asn) variant of SDHB (P21912)
K40N (p.Lys40Asn) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
K40N (p.Lys40Asn) variant details
- p.Lys40Asn
- rs1570958090
- ClinGen CA338228226
- ClinVar RCV000801303
- ClinVar RCV002352362
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)