N3H (p.Asn3His) variant of SLC8A1 (Sodium/calcium exchanger 1)
N3H (p.Asn3His) 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 0.17 / 1. The record also includes population frequency data and structural context.
N3H (p.Asn3His) variant details
- p.Asn3His
- ExAC rs747307904
- TOPMed rs747307904
- gnomAD rs747307904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- CADD 14.80
- PolyPhen-2 0.06
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available