R552T (p.Arg552Thr) variant of SOS1 (Son of sevenless homolog 1)
R552T (p.Arg552Thr) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R552T (p.Arg552Thr) variant details
- p.Arg552Thr
- rs397517154
- ClinGen CA261728
- cosmic curated COSV10593
- ClinVar RCV000159176
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)
- Cited in: Noonan Syndrome. (PMID 20301303)