K8K (p.Lys8Lys) variant of CACNA1D (Q01668)
K8K (p.Lys8Lys) in CACNA1D (Q01668) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs1042599607
- gnomAD 3-53495190-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available