S28Y (p.Ser28Tyr) variant of SLC8A1 (Sodium/calcium exchanger 1)
S28Y (p.Ser28Tyr) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- TOPMed rs1226702240
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.08
- CADD 6.79
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available