N5H (p.Asn5His) variant of CACNA1C (Q13936)
N5H (p.Asn5His) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N5H (p.Asn5His) variant details
- p.Asn5His
- rs886049150
- gnomAD 12-2053575-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available