L5M (p.Leu5Met) variant of SDHC (Q99643)
L5M (p.Leu5Met) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- rs894925936
- ClinGen CA31675345
- cosmic curated COSV10648
- ClinVar RCV000821325
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.51
- MetaLR 0.84
- MetaSVM 0.60
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)