V20G (p.Val20Gly) variant of KIT (P10721)
V20G (p.Val20Gly) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V20G (p.Val20Gly) variant details
- p.Val20Gly
- rs1393581394
- ClinGen CA356898012
- ClinVar RCV001024778
- ClinVar RCV001799720
- Uncertain significance
- not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.18
- MetaLR 0.21
- MetaSVM -0.83
- CADD 23.10
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)