G36D (p.Gly36Asp) variant of JPH2 (Junctophilin-2)
G36D (p.Gly36Asp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of JPH2-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs761193216
- ClinGen CA9868925
- ClinVar RCV002424365
- ClinVar RCV003403822
- Uncertain significance
- JPH2-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.56
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (JPH2-related disorder; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available