L6V (p.Leu6Val) variant of SDHC (Q99643)
L6V (p.Leu6Val) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- rs1325823872
- ClinGen CA343355002
- ClinVar RCV001216251
- ClinVar RCV004803572
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- MetaLR 0.87
- MetaSVM 0.50
- CADD 23.00
- PolyPhen-2 0.17
- SIFT 0.45
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)