D18G (p.Asp18Gly) variant of CACNA1E (Q15878)
D18G (p.Asp18Gly) 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.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- rs1379505181
- ClinGen CA343844238
- ClinVar RCV002298291
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available