F71L (p.Phe71Leu) variant of PTPN11 (Q06124)
F71L (p.Phe71Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- rs1555267558
- ClinGen CA386777846
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Likely pathogenic
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five… (PMID 12634870)
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)