R138S (p.Arg138Ser) variant of JPH2 (Junctophilin-2)
R138S (p.Arg138Ser) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R138S (p.Arg138Ser) variant details
- p.Arg138Ser
- rs1312146372
- ClinGen CA409094435
- ClinVar RCV000788684
- TOPMed rs1312146372
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.65
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available