T79I (p.Thr79Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
T79I (p.Thr79Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- TOPMed rs897284573
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.17
- CADD 18.40
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available