G158E (p.Gly158Glu) variant of ITPR2 (Q14571)
G158E (p.Gly158Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G158E (p.Gly158Glu) variant details
- p.Gly158Glu
- ExAC rs749411944
- gnomAD rs749411944
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available