E47* (p.Glu47Ter) variant of SIX1 (Homeobox protein SIX1)
E47* (p.Glu47Ter) in SIX1 (Homeobox protein SIX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- gnomAD 14-60649051-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 37.00
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.458
- Literature evidence available