H36Q (p.His36Gln) variant of CBL (E3 ubiquitin-protein ligase CBL)
H36Q (p.His36Gln) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- rs748961080
- ClinGen CA382976209
- ClinVar RCV000821477
- ExAC rs748961080
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.29
- MetaLR 0.14
- MetaSVM -0.91
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.739