N119D (p.Asn119Asp) variant of ITPR2 (Q14571)
N119D (p.Asn119Asp) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N119D (p.Asn119Asp) variant details
- p.Asn119Asp
- TOPMed rs889679390
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available