T128M (p.Thr128Met) variant of JPH2 (Junctophilin-2)
T128M (p.Thr128Met) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
T128M (p.Thr128Met) variant details
- p.Thr128Met
- rs1344351300
- NCI-TCGA Cosmic COSV6590
- gnomAD rs1344351300
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.48
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available