E97K (p.Glu97Lys) variant of ITPR2 (Q14571)
E97K (p.Glu97Lys) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E97K (p.Glu97Lys) variant details
- p.Glu97Lys
- cosmic curated COSV10502
- ExAC rs766813958
- TOPMed rs766813958
- gnomAD rs766813958
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 27.30
- PolyPhen-2 0.54
- SIFT 0.04
- Population evidence available
- Structural context available