A5G (p.Ala5Gly) variant of CTNNB1 (Catenin beta-1)
A5G (p.Ala5Gly) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs1448779783
- ClinGen CA352227952
- ClinVar RCV002028107
- TOPMed rs1448779783
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.23
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available