V560A (p.Val560Ala) variant of KIT (P10721)
V560A (p.Val560Ala) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V560A (p.Val560Ala) variant details
- p.Val560Ala
- rs121913521
- ClinGen CA16602397
- ClinVar RCV001861473
- ClinVar RCV005365267
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.72
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 0.98
- CADD 26.60
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)