T109I (p.Thr109Ile) variant of JPH2 (Junctophilin-2)
T109I (p.Thr109Ile) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T109I (p.Thr109Ile) variant details
- p.Thr109Ile
- rs1250442339
- ClinGen CA409095035
- ClinVar RCV004524504
- ClinVar RCV006488803
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.50
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available