A124T (p.Ala124Thr) variant of JPH2 (Junctophilin-2)
A124T (p.Ala124Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A124T (p.Ala124Thr) variant details
- p.Ala124Thr
- rs150070513
- ClinGen CA9868888
- ClinVar RCV002353036
- ESP rs150070513
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.24
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available