A123V (p.Ala123Val) variant of CD40LG (CD40 ligand)
A123V (p.Ala123Val) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- rs104894778
- ClinGen CA16621208
- NCI-TCGA Cosmic COSV6569
- ClinVar RCV000481348
- Uncertain significance
- not provided; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.70
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.12
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Most common in the HGDP:UYGUR population (allele frequency 0.12)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)