A96T (p.Ala96Thr) variant of SLC8A1 (Sodium/calcium exchanger 1)
A96T (p.Ala96Thr) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- NCI-TCGA TCGA novel
- TOPMed rs1697879086
- gnomAD rs1697879086
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.81
- CADD 25.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available