E38G (p.Glu38Gly) variant of SLC8A1 (Sodium/calcium exchanger 1)
E38G (p.Glu38Gly) in SLC8A1 (Sodium/calcium exchanger 1) 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.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- gnomAD rs1440308785
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- CADD 21.40
- PolyPhen-2 0.05
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available