L7V (p.Leu7Val) variant of SDHB (P21912)
L7V (p.Leu7Val) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastrointestinal stro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs2078164049
- ClinGen CA2573130772
- ClinVar RCV001911604
- ClinVar RCV004041770
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastrointestinal stro
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.30
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-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)