R552W (p.Arg552Trp) variant of SOS1 (Son of sevenless homolog 1)
R552W (p.Arg552Trp) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R552W (p.Arg552Trp) variant details
- p.Arg552Trp
- rs137852814
- ClinGen CA16042455
- cosmic curated COSV10944
- ClinVar RCV000414145
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.82
- CADD 26.60
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available