F285L (p.Phe285Leu) variant of PTPN11 (Q06124)
F285L (p.Phe285Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy; not provided; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F285L (p.Phe285Leu) variant details
- p.Phe285Leu
- rs397507531
- ClinGen CA220155
- cosmic curated COSV61010
- ClinVar RCV000037662
- Pathogenic
- RASopathy; not provided; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- CADD 33.00
- PolyPhen-2 0.84
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)