I33N (p.Ile33Asn) variant of CD40LG (CD40 ligand)
I33N (p.Ile33Asn) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Common variable immunodeficiency; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I33N (p.Ile33Asn) variant details
- p.Ile33Asn
- rs1283517835
- ClinGen CA414751867
- ClinVar RCV001027559
- ClinVar RCV006465072
- Uncertain significance
- Common variable immunodeficiency; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.80
- MetaLR 0.44
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (Common variable immunodeficiency; Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)