E65G (p.Glu65Gly) variant of SLC8A1 (Sodium/calcium exchanger 1)
E65G (p.Glu65Gly) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E65G (p.Glu65Gly) variant details
- p.Glu65Gly
- TOPMed rs756315238
- gnomAD rs756315238
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.97
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available