E37K (p.Glu37Lys) variant of JPH2 (Junctophilin-2)
E37K (p.Glu37Lys) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs1427861059
- ClinGen CA409095517
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60697
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.61
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available