M36I (p.Met36Ile) variant of CD40LG (CD40 ligand)
M36I (p.Met36Ile) 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 0.31 / 1. The record also includes published literature and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- rs2076095000
- ClinGen CA414751909
- cosmic curated COSV65698
- ClinVar RCV001059437
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.50
- MetaLR 0.15
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.47
- EVE 0.12
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance (in HIGM1)
- UniProt: Uncertain significance (in HIGM1)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)