R93L (p.Arg93Leu) variant of JPH2 (Junctophilin-2)
R93L (p.Arg93Leu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
R93L (p.Arg93Leu) variant details
- p.Arg93Leu
- rs1131692244
- ClinGen CA409095140
- ClinVar RCV004401395
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.95
- MetaLR 0.17
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available