E27V (p.Glu27Val) variant of ATP1A2 (P50993)
E27V (p.Glu27Val) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- cosmic curated COSV10749
- TOPMed rs1651376646
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available