D45N (p.Asp45Asn) variant of ITPR2 (Q14571)
D45N (p.Asp45Asn) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- TOPMed rs1164263542
- gnomAD rs1164263542
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available