A4V (p.Ala4Val) variant of KIT (P10721)
A4V (p.Ala4Val) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1423062466
- ClinGen CA356897853
- ClinVar RCV001209803
- ClinVar RCV002348685
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- MetaLR 0.25
- MetaSVM -0.36
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gastroint)
- 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)