F285S (p.Phe285Ser) variant of PTPN11 (Q06124)
F285S (p.Phe285Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant PTPN11-related disorders; PTPN11-related disorder; Noonan syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
F285S (p.Phe285Ser) variant details
- p.Phe285Ser
- rs121918463
- ClinGen CA204408
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Pathogenic
- Autosomal dominant PTPN11-related disorders; PTPN11-related disorder; Noonan syn
- 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 (Autosomal dominant PTPN11-related disorders; PTPN11-related diso)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. (PMID 12161469)