A245E (p.Ala245Glu) variant of ITPR2 (Q14571)
A245E (p.Ala245Glu) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A245E (p.Ala245Glu) variant details
- p.Ala245Glu
- Ensembl rs1592064105
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available