E108K (p.Glu108Lys) variant of SOS1 (Son of sevenless homolog 1)
E108K (p.Glu108Lys) 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 0.52 / 1. The record also includes published literature and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- rs397517164
- ClinGen CA261739
- cosmic curated COSV67677
- ClinVar RCV000038546
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.96
- MetaLR 0.55
- MetaSVM 0.02
- PolyPhen-2 0.39
- SIFT 0.01
- EVE 0.45
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- 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)