A19T (p.Ala19Thr) variant of ITPR2 (Q14571)
A19T (p.Ala19Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- Ensembl rs754511276
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.72
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.15
- Population evidence available
- Structural context available