D97G (p.Asp97Gly) variant of CD40LG (CD40 ligand)
D97G (p.Asp97Gly) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D97G (p.Asp97Gly) variant details
- p.Asp97Gly
- rs1004051141
- ClinGen CA336266740
- ClinVar RCV002039357
- TOPMed rs1004051141
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.98
- CADD 3.63
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)