L5F (p.Leu5Phe) variant of SDHC (Q99643)
L5F (p.Leu5Phe) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs771746264
- ClinGen CA016220
- ClinVar RCV000163869
- ClinVar RCV000367287
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.43
- MetaLR 0.80
- MetaSVM 0.43
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.41
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)