Y279S (p.Tyr279Ser) variant of PTPN11 (Q06124)
Y279S (p.Tyr279Ser) 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; LEOPARD syndrome 1; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Y279S (p.Tyr279Ser) variant details
- p.Tyr279Ser
- rs121918456
- ClinGen CA344998
- ClinVar RCV000055889
- ClinVar RCV001064303
- Pathogenic/Likely pathogenic
- RASopathy; LEOPARD syndrome 1; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; LEOPARD syndrome 1; Noonan syndrome 1)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Structural context available
- Cited in: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (PMID 15121796)
- Cited in: PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. (PMID 15520399)