N3S (p.Asn3Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
N3S (p.Asn3Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- ExAC rs780255113
- TOPMed rs780255113
- gnomAD rs780255113
- Missense
- Variant Prioritization Score for Impact Estimate 0.0867
- REVEL 0.04
- CADD 7.65
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available