Q46L (p.Gln46Leu) variant of SOS1 (Son of sevenless homolog 1)
Q46L (p.Gln46Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
Q46L (p.Gln46Leu) variant details
- p.Gln46Leu
- rs1190714377
- ClinGen CA346374261
- ClinVar RCV002264902
- gnomAD rs1190714377
- Uncertain significance
- Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.18
- PolyPhen-2 0.49
- SIFT 0.28
- EVE 0.14
- 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)