A72V (p.Ala72Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
A72V (p.Ala72Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Angelman syndrome. The record also includes structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- NCI-TCGA Cosmic COSV5167
- cosmic curated COSV51670
- Uncertain significance
- Angelman syndrome
- Missense
- ClinVar: Uncertain significance (Angelman syndrome)
- UniProt: Uncertain significance
- Structural context available