M36K (p.Met36Lys) variant of CD40LG (CD40 ligand)
M36K (p.Met36Lys) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
M36K (p.Met36Lys) variant details
- p.Met36Lys
- rs104894774
- ClinGen CA16621207
- ClinVar RCV000480912
- ClinVar RCV001368065
- Conflicting interpretations
- not provided; Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.93
- MetaLR 0.22
- MetaSVM -0.46
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.40
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With… (PMID 35572607)
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)