M224T (p.Met224Thr) variant of ITPR2 (Q14571)
M224T (p.Met224Thr) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M224T (p.Met224Thr) variant details
- p.Met224Thr
- TOPMed rs1290983158
- gnomAD rs1290983158
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.88
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available