Q16Q (p.Gln16Gln) variant of CACNA1C (Q13936)
Q16Q (p.Gln16Gln) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q16Q (p.Gln16Gln) variant details
- p.Gln16Gln
- gnomAD 12-2053610-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available