V34F (p.Val34Phe) variant of BAK1 (Q16611)
V34F (p.Val34Phe) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V34F (p.Val34Phe) variant details
- p.Val34Phe
- rs1561831579
- gnomAD 6-33575898-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 28.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available