A20A (p.Ala20Ala) variant of CTNNB1 (Catenin beta-1)
A20A (p.Ala20Ala) in CTNNB1 (Catenin beta-1) 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.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs1044865901
- gnomAD 3-41224572-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 1.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available