Y279C (p.Tyr279Cys) variant of PTPN11 (Q06124)
Y279C (p.Tyr279Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y279C (p.Tyr279Cys) variant details
- p.Tyr279Cys
- rs121918456
- ClinGen CA220149
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61009
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 29.90
- PolyPhen-2 0.85
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS1 and LPRD1)
- UniProt: Pathogenic (in NS1 and LPRD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. (PMID 12058348)