A24P (p.Ala24Pro) variant of BAX (Apoptosis regulator BAX)
A24P (p.Ala24Pro) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A24P (p.Ala24Pro) variant details
- p.Ala24Pro
- rs771938966
- gnomAD 19-48955578-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 33.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available