A76S (p.Ala76Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)

Name: SLC8A1 A76S (p.Ala76Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

A76S (p.Ala76Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.

A76S (p.Ala76Ser) variant details

p.Ala76Ser
gnomAD rs1238192528
Missense
Variant Prioritization Score for Impact Estimate 0.451
REVEL 0.21
CADD 24.70
PolyPhen-2 0.97
SIFT 0.04
Most common in the REMAINING population (allele frequency 1.7e-05)
Structural context available