p.Gly7delinsAspTer variant of WAS (P42768)
p.Gly7delinsAspTer in WAS (P42768) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly7delinsAspTer variant details
- gnomAD X-48683872-G-GATT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available