R498L (p.Arg498Leu) variant of PTPN11 (Q06124)
R498L (p.Arg498Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R498L (p.Arg498Leu) variant details
- p.Arg498Leu
- rs397507542
- ClinGen CA273434
- cosmic curated COSV61005
- ClinVar RCV000033540
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- 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: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)