Y2* (p.Tyr2Ter) variant of SLC8A1 (Sodium/calcium exchanger 1)
Y2* (p.Tyr2Ter) in SLC8A1 (Sodium/calcium exchanger 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y2* (p.Tyr2Ter) variant details
- p.Tyr2Ter
- ExAC rs768751346
- TOPMed rs768751346
- gnomAD rs768751346
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available