I437S (p.Ile437Ser) variant of SOS1 (Son of sevenless homolog 1)
I437S (p.Ile437Ser) 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 Fibromatosis, gingival, 1; Noonan syndrome 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I437S (p.Ile437Ser) variant details
- p.Ile437Ser
- rs397517150
- ClinGen CA297264
- ClinVar RCV000159165
- ClinVar RCV001261079
- Pathogenic/Likely pathogenic
- Fibromatosis, gingival, 1; Noonan syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.78
- CADD 27.40
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (Fibromatosis, gingival, 1; Noonan syndrome 4; not provided)
- 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: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)