S502T (p.Ser502Thr) variant of PTPN11 (Q06124)
S502T (p.Ser502Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Noonan syndrome 1; Juvenile myelomonocytic leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S502T (p.Ser502Thr) variant details
- p.Ser502Thr
- rs121918458
- ClinGen CA180739
- cosmic curated COSV61015
- ClinVar RCV000014260
- Pathogenic
- Cardiovascular phenotype; Noonan syndrome 1; Juvenile myelomonocytic leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.87
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.73
- SIFT 0.04
- EVE 0.73
- ClinVar: Pathogenic (Cardiovascular phenotype; Noonan syndrome 1; Juvenile myelomonoc)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. (PMID 12325025)
- Cited in: Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. (PMID 12739139)