W85R (p.Trp85Arg) variant of SOS1 (Son of sevenless homolog 1)
W85R (p.Trp85Arg) 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 RASopathy; Noonan syndrome 4; Fibromatosis, gingival, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
W85R (p.Trp85Arg) variant details
- p.Trp85Arg
- rs730881054
- ClinGen CA346373979
- ClinVar RCV000545153
- ClinVar RCV001261068
- Pathogenic/Likely pathogenic
- RASopathy; Noonan syndrome 4; Fibromatosis, gingival, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Noonan syndrome 4; Fibromatosis, gingival, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)