K43N (p.Lys43Asn) variant of ICOS (Inducible T-cell costimulator)
K43N (p.Lys43Asn) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 1. The record also includes structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs1690065667
- ClinGen CA350139701
- ClinVar RCV001332934
- Ensembl rs1690065667
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available