N145D (p.Asn145Asp) variant of ITPR2 (Q14571)
N145D (p.Asn145Asp) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N145D (p.Asn145Asp) variant details
- p.Asn145Asp
- ExAC rs759542652
- gnomAD rs759542652
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.72
- CADD 27.30
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available