T59I (p.Thr59Ile) variant of JPH2 (Junctophilin-2)
T59I (p.Thr59Ile) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- TOPMed rs1171742766
- gnomAD rs1171742766
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.33
- AlphaMissense 0.25
- MetaLR 0.15
- MetaSVM -0.83
- CADD 27.50
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available