A78T (p.Ala78Thr) variant of SLC8A1 (Sodium/calcium exchanger 1)
A78T (p.Ala78Thr) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- Ensembl rs1697890840
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.28
- CADD 25.60
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available