K91R (p.Lys91Arg) variant of JPH2 (Junctophilin-2)
K91R (p.Lys91Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
K91R (p.Lys91Arg) variant details
- p.Lys91Arg
- rs2072843641
- ClinGen CA409095154
- ClinVar RCV002431355
- ClinVar RCV006629468
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.71
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available