E36D (p.Glu36Asp) variant of SLC8A1 (Sodium/calcium exchanger 1)
E36D (p.Glu36Asp) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- ExAC rs780535144
- TOPMed rs780535144
- gnomAD rs780535144
- Missense
- Variant Prioritization Score for Impact Estimate 0.0991
- REVEL 0.03
- CADD 9.23
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available