L53V (p.Leu53Val) variant of SOS1 (Son of sevenless homolog 1)
L53V (p.Leu53Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 4. The record also includes published literature and structural context.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- rs2465395423
- ClinGen CA346374216
- ClinVar RCV003984956
- Uncertain significance
- Noonan syndrome 4
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)