V78L (p.Val78Leu) variant of AICDA (Q9GZX7)
V78L (p.Val78Leu) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 2. The record also includes structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- rs2540251710
- ClinGen CA383819220
- ClinVar RCV002926822
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available