F46S (p.Phe46Ser) variant of JPH2 (Junctophilin-2)
F46S (p.Phe46Ser) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- ExAC rs767642742
- gnomAD rs767642742
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.51
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available