L51W (p.Leu51Trp) variant of CACNA1D (Q01668)
L51W (p.Leu51Trp) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L51W (p.Leu51Trp) variant details
- p.Leu51Trp
- rs2088942047
- gnomAD 3-53329430-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 22.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available