E85K (p.Glu85Lys) variant of JPH2 (Junctophilin-2)
E85K (p.Glu85Lys) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- rs2515764210
- ClinGen CA409095201
- ClinVar RCV002433223
- ClinVar RCV005635542
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.43
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutation in JPH2 cause dilated cardiomyopathy. (PMID 27471098)