N19D (p.Asn19Asp) variant of CACNA1C (Q13936)
N19D (p.Asn19Asp) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- gnomAD 12-2115229-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available