I437T (p.Ile437Thr) variant of SOS1 (Son of sevenless homolog 1)
I437T (p.Ile437Thr) 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 Cardiovascular phenotype; Noonan syndrome and Noonan-related syndrome; Male subf. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I437T (p.Ile437Thr) variant details
- p.Ile437Thr
- rs397517150
- ClinGen CA261719
- ClinVar RCV000038516
- ClinVar RCV000159164
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Noonan syndrome and Noonan-related syndrome; Male subf
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.78
- CADD 25.90
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Noonan syndrome and Noonan-related syn)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)
- Cited in: Noonan Syndrome. (PMID 20301303)