G3R (p.Gly3Arg) variant of JPH2 (Junctophilin-2)
G3R (p.Gly3Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- gnomAD rs1292510248
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.28
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available