Q115E (p.Gln115Glu) variant of JPH2 (Junctophilin-2)
Q115E (p.Gln115Glu) 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.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- ExAC rs745528112
- gnomAD rs745528112
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.29
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available