V28I (p.Val28Ile) variant of SDHC (Q99643)
V28I (p.Val28Ile) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs754818119
- ClinGen CA343360829
- ClinVar RCV000793631
- ClinVar RCV002424797
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.22
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.08
- CADD 19.40
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)