S9F (p.Ser9Phe) variant of CD40LG (CD40 ligand)
S9F (p.Ser9Phe) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs1338696512
- ClinGen CA414751480
- ClinVar RCV001066297
- TOPMed rs1338696512
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.21
- MetaLR 0.25
- MetaSVM -0.74
- CADD 18.40
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)