G730D (p.Gly730Asp) variant of CTNNB1 (Catenin beta-1)
G730D (p.Gly730Asp) 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 Autosomal dominant polycystic liver disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G730D (p.Gly730Asp) variant details
- p.Gly730Asp
- rs2078513943
- ClinGen CA352237354
- ClinVar RCV001844881
- gnomAD rs2078513943
- Likely pathogenic
- Autosomal dominant polycystic liver disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.30
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.86
- ClinVar: Likely pathogenic (Autosomal dominant polycystic liver disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available