I74T (p.Ile74Thr) variant of JPH2 (Junctophilin-2)
I74T (p.Ile74Thr) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
I74T (p.Ile74Thr) variant details
- p.Ile74Thr
- TOPMed rs1300809509
- gnomAD rs1300809509
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.20
- CADD 28.10
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available