Q71E (p.Gln71Glu) variant of ITPR2 (Q14571)
Q71E (p.Gln71Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q71E (p.Gln71Glu) variant details
- p.Gln71Glu
- TOPMed rs1948908197
- gnomAD rs1948908197
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.82
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available