W8R (p.Trp8Arg) variant of KIT (P10721)
W8R (p.Trp8Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- rs1577898533
- ClinGen CA356897886
- ClinVar RCV001218175
- Ensembl rs1577898533
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.46
- MetaLR 0.23
- MetaSVM -0.77
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.06
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)