R30K (p.Arg30Lys) variant of ATP1A1 (P05023)
R30K (p.Arg30Lys) in ATP1A1 (P05023) 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.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- rs2525807607
- ClinGen CA341840331
- ClinVar RCV003695793
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available