D77E (p.Asp77Glu) variant of CACNA1S (Q13698)
D77E (p.Asp77Glu) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D77E (p.Asp77Glu) variant details
- p.Asp77Glu
- gnomAD rs1436049839
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.33
- CADD 16.90
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available