E23E (p.Glu23Glu) variant of CACNA1D (Q01668)
E23E (p.Glu23Glu) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- gnomAD 3-53497153-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available