L7H (p.Leu7His) variant of FAS (P25445)
L7H (p.Leu7His) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- Ensembl rs2133384423
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available