I39V (p.Ile39Val) variant of KIT (P10721)
I39V (p.Ile39Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs1298190443
- ClinGen CA356896871
- ClinVar RCV001318034
- gnomAD rs1298190443
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.21
- AlphaMissense 0.18
- MetaLR 0.23
- MetaSVM -0.61
- CADD 22.20
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)