M25V (p.Met25Val) variant of CD40LG (CD40 ligand)
M25V (p.Met25Val) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M25V (p.Met25Val) variant details
- p.Met25Val
- rs2076094894
- ClinGen CA414751707
- ClinVar RCV001343909
- Ensembl rs2076094894
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.90
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)