T50S (p.Thr50Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
T50S (p.Thr50Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- ExAC rs762666688
- TOPMed rs762666688
- gnomAD rs762666688
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.17
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available