H36P (p.His36Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
H36P (p.His36Pro) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- ExAC rs777499142
- gnomAD rs777499142
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.37
- MetaLR 0.14
- MetaSVM -0.92
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.739