M1L (p.Met1Leu) variant of SDHB (P21912)
M1L (p.Met1Leu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1131691049
- ClinGen CA338230894
- ClinVar RCV000492218
- ClinVar RCV000505307
- Pathogenic
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- MetaLR 0.91
- MetaSVM 0.91
- PolyPhen-2 0.17
- SIFT 0.40
- MutPred 0.98
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- EBI: Pathogenic
- UniProt: 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)