H32N (p.His32Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
H32N (p.His32Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H32N (p.His32Asn) variant details
- p.His32Asn
- gnomAD rs1697930570
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.03
- CADD 6.83
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available