L261F (p.Leu261Phe) variant of PTPN11 (Q06124)
L261F (p.Leu261Phe) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L261F (p.Leu261Phe) variant details
- p.Leu261Phe
- rs397507525
- ClinGen CA235373
- ClinVar RCV000037657
- ClinVar RCV000157701
- Pathogenic/Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.55
- MetaLR 0.92
- MetaSVM 0.98
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; not provided; Noonan syndrome 1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. (PMID 28074573)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)