L201P (p.Leu201Pro) variant of ITPR2 (Q14571)
L201P (p.Leu201Pro) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L201P (p.Leu201Pro) variant details
- p.Leu201Pro
- TOPMed rs1454141184
- gnomAD rs1454141184
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.48
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.40
- Population evidence available
- Structural context available