A43T (p.Ala43Thr) variant of ITPR2 (Q14571)
A43T (p.Ala43Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- ExAC rs762104225
- gnomAD rs762104225
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.44
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.09
- Population evidence available
- Structural context available