A7V (p.Ala7Val) variant of KIT (P10721)
A7V (p.Ala7Val) 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; Gastrointestinal stromal tumor; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs2109520869
- ClinGen CA356897884
- ClinVar RCV001872300
- ClinVar RCV003228008
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.44
- MetaLR 0.25
- MetaSVM -0.47
- PolyPhen-2 0.07
- SIFT 0.01
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)