R552S (p.Arg552Ser) variant of SOS1 (Son of sevenless homolog 1)
R552S (p.Arg552Ser) 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 and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R552S (p.Arg552Ser) variant details
- p.Arg552Ser
- rs267607079
- ClinGen CA261730
- ClinVar RCV000038525
- ClinVar RCV000149832
- Pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.86
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PMID 17143282)
- Cited in: Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. (PMID 18925667)