T59N (p.Thr59Asn) variant of JPH2 (Junctophilin-2)
T59N (p.Thr59Asn) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- rs1171742766
- ClinGen CA409095367
- ClinVar RCV002614447
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.25
- MetaLR 0.15
- MetaSVM -0.83
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.40
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available