E87K (p.Glu87Lys) variant of CACNA1S (Q13698)
E87K (p.Glu87Lys) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E87K (p.Glu87Lys) variant details
- p.Glu87Lys
- ExAC rs774972928
- gnomAD rs774972928
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.79
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available