L41P (p.Leu41Pro) variant of CD40LG (CD40 ligand)
L41P (p.Leu41Pro) 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 0.49 / 1. The record also includes published literature and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs2148550578
- ClinGen CA414752158
- ClinVar RCV001372922
- Ensembl rs2148550578
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.82
- MetaLR 0.39
- MetaSVM -0.48
- PolyPhen-2 0.09
- SIFT 0.02
- EVE 0.66
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)