Y63C (p.Tyr63Cys) variant of JPH2 (Junctophilin-2)
Y63C (p.Tyr63Cys) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- ExAC rs780923649
- gnomAD rs780923649
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available