A53P (p.Ala53Pro) variant of BAK1 (Q16611)
A53P (p.Ala53Pro) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A53P (p.Ala53Pro) variant details
- p.Ala53Pro
- rs768325698
- gnomAD 6-33575838-GCAGC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 24.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available