S548R (p.Ser548Arg) variant of SOS1 (Son of sevenless homolog 1)
S548R (p.Ser548Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S548R (p.Ser548Arg) variant details
- p.Ser548Arg
- rs397517149
- ClinGen CA234977
- ClinVar RCV000038515
- ClinVar RCV000153986
- Pathogenic/Likely pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy; Noonan syndrome 4)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)