S99T (p.Ser99Thr) variant of JPH2 (Junctophilin-2)
S99T (p.Ser99Thr) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
S99T (p.Ser99Thr) variant details
- p.Ser99Thr
- rs2515764096
- ClinGen CA409095106
- ClinVar RCV003750151
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available