G238V (p.Gly238Val) variant of FAS (P25445)
G238V (p.Gly238Val) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The record also includes structural context.
G238V (p.Gly238Val) variant details
- p.Gly238Val
- Ensembl rs2119445275
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available