I57F (p.Ile57Phe) variant of CACNA1D (Q01668)
I57F (p.Ile57Phe) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I57F (p.Ile57Phe) variant details
- p.Ile57Phe
- gnomAD 3-53329340-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available