V559A (p.Val559Ala) variant of KIT (P10721)
V559A (p.Val559Ala) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V559A (p.Val559Ala) variant details
- p.Val559Ala
- rs121913517
- ClinGen CA123545
- ClinVar RCV000014879
- ClinVar RCV000663345
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.93
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.03
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Gastroint)
- EBI: Pathogenic (in GIST)
- UniProt: Pathogenic (in GIST)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and… (PMID 11505412)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)