V13L (p.Val13Leu) variant of KIT (P10721)
V13L (p.Val13Leu) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs753316557
- ClinGen CA356897953
- ClinVar RCV002355174
- ExAC rs753316557
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.14
- MetaLR 0.19
- MetaSVM -0.93
- PolyPhen-2 0.40
- SIFT 0.02
- MutPred 0.55
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)