I46V (p.Ile46Val) variant of SDHC (Q99643)
I46V (p.Ile46Val) 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; not provided; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs1558167321
- ClinGen CA343361165
- ClinVar RCV000704346
- ClinVar RCV002386263
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.14
- MetaLR 0.44
- MetaSVM -0.65
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)