N3K (p.Asn3Lys) variant of CACNA1C (Q13936)
N3K (p.Asn3Lys) 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.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- gnomAD 12-2053571-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available