Q16K (p.Gln16Lys) variant of CACNA1C (Q13936)
Q16K (p.Gln16Lys) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- gnomAD 12-2053606-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available