R11Q (p.Arg11Gln) variant of CD40LG (CD40 ligand)
R11Q (p.Arg11Gln) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs145115086
- ClinGen CA10528065
- NCI-TCGA Cosmic COSV6569
- cosmic curated COSV65698
- Benign/Likely benign
- not provided; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- MetaLR 0.42
- MetaSVM -0.69
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided; Hyper-IgM syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)