A104T (p.Ala104Thr) variant of JPH2 (Junctophilin-2)
A104T (p.Ala104Thr) in JPH2 (Junctophilin-2) is a missense change. 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.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- gnomAD rs1485342055
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.23
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available