A13T (p.Ala13Thr) variant of JPH2 (Junctophilin-2)
A13T (p.Ala13Thr) 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 0.33 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- TOPMed rs1398543222
- gnomAD rs1398543222
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.31
- SIFT 0.71
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available