Y94C (p.Tyr94Cys) variant of JPH2 (Junctophilin-2)
Y94C (p.Tyr94Cys) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y94C (p.Tyr94Cys) variant details
- p.Tyr94Cys
- ExAC rs776470860
- gnomAD rs776470860
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.43
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available