P39H (p.Pro39His) variant of TSC1 (Hamartin)
P39H (p.Pro39His) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
P39H (p.Pro39His) variant details
- p.Pro39His
- cosmic curated COSV53763
- ExAC rs770831962
- gnomAD rs770831962
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available