C49S (p.Cys49Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
C49S (p.Cys49Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C49S (p.Cys49Ser) variant details
- p.Cys49Ser
- TOPMed rs1188111178
- gnomAD rs1188111178
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.50
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available