K33R (p.Lys33Arg) variant of JPH2 (Junctophilin-2)
K33R (p.Lys33Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- rs573848816
- ClinGen CA9868927
- ClinVar RCV000703807
- 1000Genomes rs573848816
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.22
- CADD 29.80
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available