Q90H (p.Gln90His) variant of CD40LG (CD40 ligand)
Q90H (p.Gln90His) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q90H (p.Gln90His) variant details
- p.Gln90His
- rs2076100638
- ClinGen CA414753582
- ClinVar RCV003512422
- gnomAD rs2076100638
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.97
- CADD 14.80
- PolyPhen-2 0.13
- SIFT 0.17
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)