R498Q (p.Arg498Gln) variant of PTPN11 (Q06124)
R498Q (p.Arg498Gln) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R498Q (p.Arg498Gln) variant details
- p.Arg498Gln
- rs397507542
- ClinGen CA386779805
- cosmic curated COSV61009
- ClinVar RCV002471444
- Likely pathogenic
- Noonan syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Noonan syndrome 1; not provided)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)