Y371N (p.Tyr371Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
Y371N (p.Tyr371Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder; CBL-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y371N (p.Tyr371Asn) variant details
- p.Tyr371Asn
- rs267606706
- ClinGen CA296015
- cosmic curated COSV50630
- ClinVar RCV000506397
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; CBL-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.96
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; CBL-related disorder; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)