A5A (p.Ala5Ala) variant of CTNNB1 (Catenin beta-1)
A5A (p.Ala5Ala) in CTNNB1 (Catenin beta-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs2125616623
- gnomAD 3-41224527-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 15.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available