I11V (p.Ile11Val) variant of ITPR2 (Q14571)
I11V (p.Ile11Val) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- ExAC rs758241063
- TOPMed rs758241063
- gnomAD rs758241063
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.04
- Population evidence available
- Structural context available