I57M (p.Ile57Met) variant of CACNA1D (Q01668)
I57M (p.Ile57Met) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I57M (p.Ile57Met) variant details
- p.Ile57Met
- rs568356446
- gnomAD 3-53329350-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 17.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available