A23T (p.Ala23Thr) variant of JPH2 (Junctophilin-2)
A23T (p.Ala23Thr) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The record also includes structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs2515764845
- ClinGen CA409095603
- ClinVar RCV003306454
- ClinVar RCV004017978
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available