T161K (p.Thr161Lys) variant of JPH2 (Junctophilin-2)
T161K (p.Thr161Lys) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Hypertro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
T161K (p.Thr161Lys) variant details
- p.Thr161Lys
- rs587782951
- ClinGen CA345816
- ClinVar RCV000143902
- ClinVar RCV000466489
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Primary familial hypertrophic cardiomyopathy; Hypertro
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.42
- CADD 27.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Primary familial hypertrophic cardiomy)
- EBI: Pathogenic (in CMH17)
- UniProt: Pathogenic (in CMH17)
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure. (PMID 30235249)
- Cited in: Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PMID 17509612)