S20R (p.Ser20Arg) variant of CD40LG (CD40 ligand)
S20R (p.Ser20Arg) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- rs2522103776
- ClinGen CA414751631
- ClinVar RCV003009040
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.11
- MetaLR 0.16
- MetaSVM -0.98
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)