F229S (p.Phe229Ser) variant of CD40LG (CD40 ligand)
F229S (p.Phe229Ser) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
F229S (p.Phe229Ser) variant details
- p.Phe229Ser
- rs1569377865
- ClinGen CA414756523
- ClinVar RCV000762673
- ClinVar RCV003512077
- Conflicting interpretations
- not provided; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyper-IgM syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)