W8G (p.Trp8Gly) variant of KIT (P10721)
W8G (p.Trp8Gly) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
W8G (p.Trp8Gly) variant details
- p.Trp8Gly
- rs1577898533
- ClinGen CA356897889
- ClinVar RCV002446317
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.31
- MetaLR 0.19
- MetaSVM -0.93
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)