L57F (p.Leu57Phe) variant of ITPR2 (Q14571)
L57F (p.Leu57Phe) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- gnomAD rs1297505737
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available