H32R (p.His32Arg) variant of SLC8A1 (Sodium/calcium exchanger 1)
H32R (p.His32Arg) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- TOPMed rs1234364602
- gnomAD rs1234364602
- Missense
- Variant Prioritization Score for Impact Estimate 0.0633
- REVEL 0.07
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available