I96V (p.Ile96Val) variant of JPH2 (Junctophilin-2)
I96V (p.Ile96Val) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- TOPMed rs1427831124
- gnomAD rs1427831124
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.04
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available