E37Q (p.Glu37Gln) variant of JPH2 (Junctophilin-2)
E37Q (p.Glu37Gln) 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 0.42 / 1. The record also includes structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs1427861059
- ClinGen CA409095516
- ClinVar RCV002017847
- gnomAD rs1427861059
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.38
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available