S15P (p.Ser15Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15P (p.Ser15Pro) 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 record also includes experimental measurements and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- rs1555225091
- ClinGen CA658797812
- ClinVar RCV000654928
- Ensembl rs1555225091
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.09