V29A (p.Val29Ala) variant of KIT (P10721)
V29A (p.Val29Ala) 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 0.35 / 1. The record also includes published literature and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- rs864622699
- ClinGen CA356896815
- ClinVar RCV001942420
- TOPMed rs864622699
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.21
- 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)