N200Y (p.Asn200Tyr) variant of PTPN11 (Q06124)
N200Y (p.Asn200Tyr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N200Y (p.Asn200Tyr) variant details
- p.Asn200Tyr
- rs727503381
- ClinGen CA273218
- cosmic curated COSV10969
- ClinVar RCV000151696
- Pathogenic/Likely pathogenic
- not provided; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.95
- MetaLR 0.44
- MetaSVM -0.09
- CADD 25.40
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy; Noonan syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)