G89D (p.Gly89Asp) variant of JPH2 (Junctophilin-2)
G89D (p.Gly89Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- rs1017359711
- ClinGen CA315352177
- cosmic curated COSV60697
- ClinVar RCV003748474
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.44
- CADD 28.10
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available