D865G (p.Asp865Gly) variant of NFKB2 (Q00653)
D865G (p.Asp865Gly) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature.
D865G (p.Asp865Gly) variant details
- p.Asp865Gly
- rs727502787
- ClinGen CA211926
- ClinVar RCV000150032
- UniProt VAR 074035
- Pathogenic/Likely pathogenic
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.77
- MetaLR 0.27
- MetaSVM -0.57
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.32
- ClinVar: Pathogenic/Likely pathogenic (Immunodeficiency, common variable, 10)
- EBI: Pathogenic (in CVID10)
- UniProt: Pathogenic (in CVID10)
- Cited in: Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with… (PMID 22013103)
- Cited in: Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. (PMID 25237204)