E32G (p.Glu32Gly) variant of BAK1 (Q16611)
E32G (p.Glu32Gly) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- rs747643368
- gnomAD 6-33575902-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available