E6* (p.Glu6Ter) variant of GATA2 (P23769)
E6* (p.Glu6Ter) in GATA2 (P23769) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- cosmic curated COSV62004
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 41.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available