E692D (p.Glu692Asp) variant of CTNNB1 (Catenin beta-1)
E692D (p.Glu692Asp) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CTNNB1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
E692D (p.Glu692Asp) variant details
- p.Glu692Asp
- rs1559477241
- ClinGen CA352236811
- ClinVar RCV000681631
- Ensembl rs1559477241
- Likely pathogenic
- CTNNB1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.32
- EVE 0.13
- ClinVar: Likely pathogenic (CTNNB1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CTNNB1 Neurodevelopmental Disorder. (PMID 35593792)