H40R (p.His40Arg) variant of ITPR2 (Q14571)
H40R (p.His40Arg) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- gnomAD rs551315529
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.34
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available