H98N (p.His98Asn) variant of NFKB2 (Q00653)
H98N (p.His98Asn) 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 0.34 / 1. The record also includes structural context.
H98N (p.His98Asn) variant details
- p.His98Asn
- rs1589859604
- ClinGen CA377896360
- ClinVar RCV000816983
- Ensembl rs1589859604
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.23
- MetaLR 0.11
- MetaSVM -1.08
- PolyPhen-2 0.74
- SIFT 1.00
- EVE 0.17
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available