S8N (p.Ser8Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
S8N (p.Ser8Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- cosmic curated COSV60494
- 1000Genomes rs199547343
- ExAC rs199547343
- TOPMed rs199547343
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0484
- REVEL 0.02
- CADD 2.36
- PolyPhen-2 0.00
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available