A54A (p.Ala54Ala) variant of BAK1 (Q16611)
A54A (p.Ala54Ala) in BAK1 (Q16611) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- gnomAD 6-33575837-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.96
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available