P48H (p.Pro48His) variant of SMARCB1 (Q12824)
P48H (p.Pro48His) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- Ensembl rs387906811
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.649