G29E (p.Gly29Glu) variant of CACNA1D (Q01668)
G29E (p.Gly29Glu) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- gnomAD 3-53329386-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available