H398Y (p.His398Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
H398Y (p.His398Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; Epilepsy, early-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
H398Y (p.His398Tyr) variant details
- p.His398Tyr
- rs946817829
- ClinGen CA229661898
- cosmic curated COSV50638
- ClinVar RCV002266595
- Conflicting interpretations
- RASopathy; Epilepsy, early-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; Epilepsy, early-onset)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available