S17A (p.Ser17Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
S17A (p.Ser17Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
S17A (p.Ser17Ala) variant details
- p.Ser17Ala
- gnomAD rs1357308168
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.36