N14K (p.Asn14Lys) variant of CACNA1C (Q13936)
N14K (p.Asn14Lys) 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.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- gnomAD 12-2053604-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.31
- CADD 19.00
- PolyPhen-2 0.97
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available