Q477R (p.Gln477Arg) variant of SOS1 (Son of sevenless homolog 1)
Q477R (p.Gln477Arg) 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 not provided; Fibromatosis, gingival, 1; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Q477R (p.Gln477Arg) variant details
- p.Gln477Arg
- rs730881044
- ClinGen CA297270
- ClinVar RCV000159168
- ClinVar RCV003224178
- Pathogenic/Likely pathogenic
- not provided; Fibromatosis, gingival, 1; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.52
- MetaLR 0.24
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.39
- EVE 0.12
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fibromatosis, gingival, 1; Noonan syndrome 4)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Structural context available
- Cited in: Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. (PMID 20683980)
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)