E121K (p.Glu121Lys) variant of JPH2 (Junctophilin-2)
E121K (p.Glu121Lys) 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; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil. 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.
E121K (p.Glu121Lys) variant details
- p.Glu121Lys
- rs1569226231
- ClinGen CA409094959
- cosmic curated COSV10441
- ClinVar RCV000702901
- Uncertain significance
- Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Cardiomyopathy, dil
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.41
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy 17; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available