D83T (p.Asp83Thr) variant of BAK1 (Q16611)
D83T (p.Asp83Thr) 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.
D83T (p.Asp83Thr) variant details
- p.Asp83Thr
- rs758307806
- gnomAD 6-33575400-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 28.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available