R93H (p.Arg93His) variant of JPH2 (Junctophilin-2)
R93H (p.Arg93His) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopathy 17; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs1131692244
- ClinGen CA409095142
- ClinVar RCV000492071
- ClinVar RCV000519697
- Uncertain significance
- Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopathy 17; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.52
- AlphaMissense 0.95
- MetaLR 0.17
- MetaSVM -0.75
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiomyopathy, dilated, 2E; Hypertrophic cardiomyopathy 17; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)