E9D (p.Glu9Asp) variant of CTNNB1 (Catenin beta-1)
E9D (p.Glu9Asp) 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 0.28 / 1. The record also includes structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs2078128295
- TOPMed rs2078128295
- ClinGen CA352227984
- ClinVar RCV003033690
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- AlphaMissense 0.59
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available