R552G (p.Arg552Gly) variant of SOS1 (Son of sevenless homolog 1)
R552G (p.Arg552Gly) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R552G (p.Arg552Gly) variant details
- p.Arg552Gly
- rs137852814
- ClinGen CA235350
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10121
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.92
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PMID 17143282)
- Cited in: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PMID 17143285)