R498W (p.Arg498Trp) variant of PTPN11 (Q06124)
R498W (p.Arg498Trp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; LEOPARD s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R498W (p.Arg498Trp) variant details
- p.Arg498Trp
- rs397507541
- ClinGen CA273451
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61005
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; LEOPARD s
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in LPRD1)
- UniProt: Pathogenic (in LPRD1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. (PMID 15121796)
- Cited in: A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. (PMID 24891296)