N308S (p.Asn308Ser) variant of PTPN11 (Q06124)
N308S (p.Asn308Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant PTPN11-related disorders; Noonan syndrome and Noonan-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N308S (p.Asn308Ser) variant details
- p.Asn308Ser
- rs121918455
- ClinGen CA235328
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61006
- Pathogenic
- Autosomal dominant PTPN11-related disorders; Noonan syndrome and Noonan-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Autosomal dominant PTPN11-related disorders; Noonan syndrome and)
- 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)