K74I (p.Lys74Ile) variant of ITPR2 (Q14571)
K74I (p.Lys74Ile) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
K74I (p.Lys74Ile) variant details
- p.Lys74Ile
- ExAC rs777078064
- gnomAD rs777078064
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.88
- CADD 29.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available