E846K (p.Glu846Lys) variant of SOS1 (Son of sevenless homolog 1)
E846K (p.Glu846Lys) 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 0.38 / 1. The record also includes published literature and structural context.
E846K (p.Glu846Lys) variant details
- p.Glu846Lys
- rs397517159
- ClinGen CA261734
- NCI-TCGA Cosmic COSV6767
- cosmic curated COSV67673
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.92
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.24
- SIFT 0.09
- EVE 0.68
- 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: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PMID 17143285)