M185I (p.Met185Ile) variant of ITPR2 (Q14571)
M185I (p.Met185Ile) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M185I (p.Met185Ile) variant details
- p.Met185Ile
- TOPMed rs1948737577
- gnomAD rs1948737577
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.47
- CADD 20.30
- PolyPhen-2 0.37
- SIFT 0.61
- Population evidence available
- Structural context available