H398R (p.His398Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
H398R (p.His398Arg) 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 CBL-related disorder; not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
H398R (p.His398Arg) variant details
- p.His398Arg
- rs1303812580
- ClinGen CA382912755
- cosmic curated COSV50630
- ClinVar RCV002040013
- Conflicting interpretations
- CBL-related disorder; not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.95
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CBL-related disorder; not specified; RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available