T42A (p.Thr42Ala) variant of PTPN11 (Q06124)
T42A (p.Thr42Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTPN11-related disorder; Cardiovascular phenotype; Noonan syndrome and Noonan-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- rs397507501
- ClinGen CA235307
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61008
- Pathogenic
- PTPN11-related disorder; Cardiovascular phenotype; Noonan syndrome and Noonan-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM 0.04
- PolyPhen-2 0.60
- SIFT 0.10
- EVE 0.23
- ClinVar: Pathogenic (PTPN11-related disorder; Cardiovascular phenotype; Noonan syndro)
- 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: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (PMID 12960218)