C15G (p.Cys15Gly) variant of JPH2 (Junctophilin-2)
C15G (p.Cys15Gly) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C15G (p.Cys15Gly) variant details
- p.Cys15Gly
- gnomAD rs1442249554
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00018)
- Structural context available