N48K (p.Asn48Lys) variant of ITPR2 (Q14571)
N48K (p.Asn48Lys) 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.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- TOPMed rs1178910616
- gnomAD rs1178910616
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available