T76I (p.Thr76Ile) variant of JPH2 (Junctophilin-2)
T76I (p.Thr76Ile) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T76I (p.Thr76Ile) variant details
- p.Thr76Ile
- gnomAD rs1257714421
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.22
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available