F229L (p.Phe229Leu) variant of CD40LG (CD40 ligand)
F229L (p.Phe229Leu) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
F229L (p.Phe229Leu) variant details
- p.Phe229Leu
- rs2148553785
- ClinGen CA414756532
- ClinVar RCV003140603
- ClinGen CA414756535
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.81
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.47
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)