G40C (p.Gly40Cys) variant of JPH2 (Junctophilin-2)
G40C (p.Gly40Cys) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- gnomAD rs1189550571
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available