E90G (p.Glu90Gly) variant of CACNA1S (Q13698)
E90G (p.Glu90Gly) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E90G (p.Glu90Gly) variant details
- p.Glu90Gly
- gnomAD rs1158143722
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available