E92V (p.Glu92Val) variant of BAK1 (Q16611)
E92V (p.Glu92Val) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E92V (p.Glu92Val) variant details
- p.Glu92Val
- rs1165454774
- gnomAD 6-33575371-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available