V29E (p.Val29Glu) variant of KIT (P10721)
V29E (p.Val29Glu) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V29E (p.Val29Glu) variant details
- p.Val29Glu
- rs864622699
- ClinGen CA348866
- ClinVar RCV000204661
- ClinVar RCV002444831
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.29
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.95
- CADD 13.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)