L141F (p.Leu141Phe) variant of ITPR2 (Q14571)
L141F (p.Leu141Phe) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L141F (p.Leu141Phe) variant details
- p.Leu141Phe
- ESP rs369678294
- TOPMed rs369678294
- gnomAD rs369678294
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.56
- CADD 15.10
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available