Q66R (p.Gln66Arg) variant of JPH2 (Junctophilin-2)
Q66R (p.Gln66Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- ExAC rs746556351
- gnomAD rs746556351
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.29
- CADD 27.90
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available