N24K (p.Asn24Lys) variant of CACNA1E (Q15878)
N24K (p.Asn24Lys) in CACNA1E (Q15878) 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 and structural context.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- gnomAD rs1290397583
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.31
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available