S27T (p.Ser27Thr) variant of CACNA1A (O00555)
S27T (p.Ser27Thr) in CACNA1A (O00555) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- TOPMed rs1349415232
- gnomAD rs1349415232
- Uncertain significance
- Missense
- MetaLR 0.68
- MetaSVM -0.14
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available