E19D (p.Glu19Asp) variant of JPH2 (Junctophilin-2)
E19D (p.Glu19Asp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Hypertrophic cardiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs143695964
- ClinGen CA315352315
- ClinVar RCV002359874
- ClinVar RCV003096878
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Hypertrophic cardiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 17; Hypert)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available