E45K (p.Glu45Lys) variant of SLC8A1 (Sodium/calcium exchanger 1)
E45K (p.Glu45Lys) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs763896494
- cosmic curated COSV10519
- TOPMed rs763896494
- gnomAD rs763896494
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.05
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available