N145H (p.Asn145His) variant of ITPR2 (Q14571)
N145H (p.Asn145His) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
N145H (p.Asn145His) variant details
- p.Asn145His
- ExAC rs759542652
- gnomAD rs759542652
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available