Y371D (p.Tyr371Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
Y371D (p.Tyr371Asp) 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 CBL-related disorder; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Y371D (p.Tyr371Asp) variant details
- p.Tyr371Asp
- rs267606706
- ClinGen CA382912301
- NCI-TCGA Cosmic COSV5062
- NCI-TCGA Cosmic COSV5063
- Pathogenic/Likely pathogenic
- CBL-related disorder; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.97
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBL-related disorder; not provided; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available