Y62D (p.Tyr62Asp) variant of PTPN11 (Q06124)
Y62D (p.Tyr62Asp) 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 0.67 / 1. The record also includes published literature and structural context.
Y62D (p.Tyr62Asp) variant details
- p.Tyr62Asp
- rs121918460
- ClinGen CA234749
- cosmic curated COSV61011
- ClinVar RCV000014257
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.63
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.25
- ClinVar: Pathogenic (RASopathy)
- 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: PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. (PMID 12325025)