N14H (p.Asn14His) variant of CACNA1C (Q13936)
N14H (p.Asn14His) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N14H (p.Asn14His) variant details
- p.Asn14His
- gnomAD 12-2053602-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available