A72G (p.Ala72Gly) variant of PTPN11 (Q06124)
A72G (p.Ala72Gly) 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; Metachond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
A72G (p.Ala72Gly) variant details
- p.Ala72Gly
- rs121918454
- ClinGen CA235319
- cosmic curated COSV61012
- ClinVar RCV000014253
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Metachond
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.11
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)