A10D (p.Ala10Asp) variant of CACNA1E (Q15878)
A10D (p.Ala10Asp) in CACNA1E (Q15878) 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.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- ExAC rs761740155
- TOPMed rs761740155
- gnomAD rs761740155
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.25
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available