P69S (p.Pro69Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
P69S (p.Pro69Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- ExAC rs764034216
- TOPMed rs764034216
- gnomAD rs764034216
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available