Y106D (p.Tyr106Asp) variant of JPH2 (Junctophilin-2)
Y106D (p.Tyr106Asp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Y106D (p.Tyr106Asp) variant details
- p.Tyr106Asp
- TOPMed rs1165983913
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available