K144N (p.Lys144Asn) variant of ITPR2 (Q14571)
K144N (p.Lys144Asn) in ITPR2 (Q14571) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K144N (p.Lys144Asn) variant details
- p.Lys144Asn
- TOPMed rs1326284306
- gnomAD rs1326284306
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.74
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available