T53A (p.Thr53Ala) variant of JPH2 (Junctophilin-2)
T53A (p.Thr53Ala) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- ExAC rs749486898
- gnomAD rs749486898
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.44
- CADD 27.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available