A5V (p.Ala5Val) variant of CTNNB1 (Catenin beta-1)
A5V (p.Ala5Val) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- cosmic curated COSV62698
- TOPMed rs1448779783
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available