S2R (p.Ser2Arg) variant of JPH2 (Junctophilin-2)
S2R (p.Ser2Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- Ensembl rs1178855099
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available