G434R (p.Gly434Arg) variant of SOS1 (Son of sevenless homolog 1)
G434R (p.Gly434Arg) 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 Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Fetal cys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G434R (p.Gly434Arg) variant details
- p.Gly434Arg
- rs397517148
- ClinGen CA346366484
- ClinVar RCV001002596
- ClinVar RCV001217212
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Fetal cys
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Germline gain-of-function mutations in SOS1 cause Noonan syndrome. (PMID 17143285)
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)