I57S (p.Ile57Ser) variant of CACNA1D (Q01668)
I57S (p.Ile57Ser) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I57S (p.Ile57Ser) variant details
- p.Ile57Ser
- rs1708196923
- gnomAD 3-53329349-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 23.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available