R148H (p.Arg148His) variant of ITPR2 (Q14571)
R148H (p.Arg148His) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R148H (p.Arg148His) variant details
- p.Arg148His
- cosmic curated COSV54387
- ExAC rs770765348
- gnomAD rs770765348
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.02
- Population evidence available
- Structural context available