A13E (p.Ala13Glu) variant of CD40LG (CD40 ligand)
A13E (p.Ala13Glu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- rs368003929
- ClinGen CA414751530
- ClinVar RCV002575828
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.90
- CADD 15.40
- PolyPhen-2 0.10
- SIFT 0.09
- 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)