V64A (p.Val64Ala) variant of CD40LG (CD40 ligand)
V64A (p.Val64Ala) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- rs771501540
- ClinGen CA10528089
- ClinVar RCV003838759
- 1000Genomes rs771501540
- Benign
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.38
- MetaLR 0.28
- MetaSVM -0.42
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Benign (Hyper-IgM syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.0069)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)