R552K (p.Arg552Lys) variant of SOS1 (Son of sevenless homolog 1)
R552K (p.Arg552Lys) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R552K (p.Arg552Lys) variant details
- p.Arg552Lys
- rs397517154
- ClinGen CA261726
- NCI-TCGA Cosmic COSV6767
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.85
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PMID 17143282)
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)