M137L (p.Met137Leu) variant of JPH2 (Junctophilin-2)
M137L (p.Met137Leu) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M137L (p.Met137Leu) variant details
- p.Met137Leu
- rs1353491705
- ClinGen CA409094442
- ClinVar RCV003749661
- ClinVar RCV004374306
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available