A124D (p.Ala124Asp) variant of JPH2 (Junctophilin-2)
A124D (p.Ala124Asp) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A124D (p.Ala124Asp) variant details
- p.Ala124Asp
- 1000Genomes rs191800007
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.47
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available