K170E (p.Lys170Glu) variant of SOS1 (Son of sevenless homolog 1)
K170E (p.Lys170Glu) 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 0.70 / 1. The record also includes published literature and structural context.
K170E (p.Lys170Glu) variant details
- p.Lys170Glu
- rs397517172
- ClinGen CA235342
- ClinVar RCV000038560
- ClinVar RCV000157689
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.79
- MetaLR 0.61
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.81
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PMID 19020799)
- Cited in: Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (PMID 19953625)