Y63C (p.Tyr63Cys) variant of PTPN11 (Q06124)
Y63C (p.Tyr63Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- rs121918459
- ClinGen CA220146
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61007
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- MetaLR 0.89
- MetaSVM 1.02
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)