H44L (p.His44Leu) variant of RIT1 (GTP-binding protein Rit1)
H44L (p.His44Leu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The record also includes published literature and structural context.
H44L (p.His44Leu) variant details
- p.His44Leu
- rs2527197303
- ClinGen CA342776020
- ClinVar RCV001261140
- ClinVar RCV006466157
- Uncertain significance
- Noonan syndrome 8
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)