R93S (p.Arg93Ser) variant of JPH2 (Junctophilin-2)
R93S (p.Arg93Ser) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R93S (p.Arg93Ser) variant details
- p.Arg93Ser
- ExAC rs747893109
- gnomAD rs747893109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.38
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available