R552M (p.Arg552Met) variant of SOS1 (Son of sevenless homolog 1)
R552M (p.Arg552Met) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R552M (p.Arg552Met) variant details
- p.Arg552Met
- rs397517154
- ClinGen CA16616762
- NCI-TCGA Cosmic COSV6767
- cosmic curated COSV67674
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.85
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Likely 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: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)
- Cited in: Noonan Syndrome. (PMID 20301303)