F285C (p.Phe285Cys) variant of PTPN11 (Q06124)
F285C (p.Phe285Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Noonan syndrome; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
F285C (p.Phe285Cys) variant details
- p.Phe285Cys
- rs121918463
- ClinGen CA261603
- cosmic curated COSV10943
- ClinVar RCV000033513
- Pathogenic/Likely pathogenic
- not provided; Noonan syndrome; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Noonan syndrome; RASopathy)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)