I53T (p.Ile53Thr) variant of CD40LG (CD40 ligand)
I53T (p.Ile53Thr) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- ExAC rs778219718
- TOPMed rs778219718
- gnomAD rs778219718
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- MetaLR 0.21
- MetaSVM -0.64
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.12
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available