E20D (p.Glu20Asp) variant of CACNB2 (Q08289)
E20D (p.Glu20Asp) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- rs1046365611
- ClinGen CA203321551
- ClinVar RCV004129693
- TOPMed rs1046365611
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available