H36Y (p.His36Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
H36Y (p.His36Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- NCI-TCGA TCGA novel
- gnomAD rs1949270091
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.27
- MetaLR 0.16
- MetaSVM -0.98
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.739