V50K (p.Val50Lys) variant of CACNA1D (Q01668)
V50K (p.Val50Lys) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V50K (p.Val50Lys) variant details
- p.Val50Lys
- gnomAD 3-53329391-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 26.70
- Most common in the REMAINING population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available