N5K (p.Asn5Lys) variant of CACNA1C (Q13936)
N5K (p.Asn5Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- rs1160042766
- gnomAD 12-2053577-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available