A7G (p.Ala7Gly) variant of KIT (P10721)
A7G (p.Ala7Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs2109520869
- ClinGen CA356897882
- ClinVar RCV002424189
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- 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)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)