T28I (p.Thr28Ile) variant of CACNA1E (Q15878)
T28I (p.Thr28Ile) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- rs1405275408
- ClinGen CA343844310
- ClinVar RCV003830492
- TOPMed rs1405275408
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available