I239V (p.Ile239Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
I239V (p.Ile239Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
I239V (p.Ile239Val) variant details
- p.Ile239Val
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51669
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.