I736R (p.Ile736Arg) variant of SOS1 (Son of sevenless homolog 1)
I736R (p.Ile736Arg) 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 Inborn genetic diseases; Noonan syndrome 4; Fibromatosis, gingival, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
I736R (p.Ile736Arg) variant details
- p.Ile736Arg
- rs1553354396
- ClinGen CA346364396
- cosmic curated COSV67674
- ClinVar RCV000622891
- Likely pathogenic
- Inborn genetic diseases; Noonan syndrome 4; Fibromatosis, gingival, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.98
- MetaLR 0.21
- MetaSVM -0.71
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.74
- ClinVar: Likely pathogenic (Inborn genetic diseases; Noonan syndrome 4; Fibromatosis, gingiv)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)