R5C (p.Arg5Cys) variant of KIT (P10721)
R5C (p.Arg5Cys) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs1716939221
- ClinGen CA356897858
- ClinVar RCV003469889
- Ensembl rs1716939221
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.68
- MetaLR 0.23
- MetaSVM -0.73
- PolyPhen-2 0.11
- SIFT 0.05
- MutPred 0.36
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)