F623I (p.Phe623Ile) variant of SOS1 (Son of sevenless homolog 1)
F623I (p.Phe623Ile) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
F623I (p.Phe623Ile) variant details
- p.Phe623Ile
- rs727505093
- ClinGen CA346365197
- ClinVar RCV000788001
- ClinVar RCV000856753
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.99
- MetaLR 0.47
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. (PMID 20673819)
- Cited in: Noonan Syndrome. (PMID 20301303)