N58Y (p.Asn58Tyr) variant of PTPN11 (Q06124)
N58Y (p.Asn58Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
N58Y (p.Asn58Tyr) variant details
- p.Asn58Tyr
- rs397507505
- ClinGen CA297070
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61007
- Pathogenic/Likely pathogenic
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.93
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.22
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available