E433K (p.Glu433Lys) variant of SOS1 (Son of sevenless homolog 1)
E433K (p.Glu433Lys) 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 and Noonan-related syndrome; not provided; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E433K (p.Glu433Lys) variant details
- p.Glu433Lys
- rs397517147
- ClinGen CA235348
- cosmic curated COSV67673
- ClinVar RCV000038513
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.78
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.02
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; not provided; Noona)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. (PMID 17143282)
- Cited in: Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PMID 19953625)