A54A (p.Ala54Ala) variant of BAX (Apoptosis regulator BAX)
A54A (p.Ala54Ala) in BAX (Apoptosis regulator BAX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- gnomAD 19-48955762-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0924
- CADD 6.43
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available