S2G (p.Ser2Gly) variant of JPH2 (Junctophilin-2)
S2G (p.Ser2Gly) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- gnomAD rs1226782336
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.20
- CADD 27.90
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available