D10N (p.Asp10Asn) variant of NFKB2 (Q00653)
D10N (p.Asp10Asn) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- rs2061110285
- ClinGen CA377895736
- ClinVar RCV003583849
- TOPMed rs2061110285
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.04
- PolyPhen-2 0.60
- SIFT 0.16
- MutPred 0.33
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available