K9del (p.Lys9del) variant of CACNA1D (Q01668)
K9del (p.Lys9del) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K9del (p.Lys9del) variant details
- gnomAD 3-53495187-GAAA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 20.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available