Y62N (p.Tyr62Asn) variant of PTPN11 (Q06124)
Y62N (p.Tyr62Asn) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y62N (p.Tyr62Asn) variant details
- p.Tyr62Asn
- rs121918460
- ClinGen CA282076
- ClinVar RCV002001115
- ClinVar RCV002052009
- Likely pathogenic
- RASopathy; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.90
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.63
- CADD 28.00
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (RASopathy; Noonan syndrome 1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)