R6* (p.Arg6Ter) variant of SLC8A1 (Sodium/calcium exchanger 1)
R6* (p.Arg6Ter) in SLC8A1 (Sodium/calcium exchanger 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R6* (p.Arg6Ter) variant details
- p.Arg6Ter
- cosmic curated COSV10441
- ExAC rs767111343
- TOPMed rs767111343
- gnomAD rs767111343
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available