V29L (p.Val29Leu) variant of KIT (P10721)
V29L (p.Val29Leu) 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.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- rs764636807
- ClinGen CA2923155
- ClinVar RCV003639830
- ExAC rs764636807
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- MetaLR 0.34
- MetaSVM -0.81
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)