L261H (p.Leu261His) variant of PTPN11 (Q06124)
L261H (p.Leu261His) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L261H (p.Leu261His) variant details
- p.Leu261His
- rs765642157
- ClinGen CA6798648
- ClinVar RCV000697357
- UniProt VAR 078102
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.56
- AlphaMissense 0.92
- MetaLR 0.93
- MetaSVM 1.05
- CADD 21.50
- PolyPhen-2 0.01
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. (PMID 28074573)
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)