p.Lys9dup variant of CACNA1D (Q01668)
p.Lys9dup in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys9dup variant details
- gnomAD 3-53495186-T-TGAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available