N14T (p.Asn14Thr) variant of CACNA1C (Q13936)
N14T (p.Asn14Thr) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N14T (p.Asn14Thr) variant details
- p.Asn14Thr
- gnomAD 12-2053599-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available