K251N (p.Lys251Asn) variant of UBE3A (Ubiquitin-protein ligase E3A)
K251N (p.Lys251Asn) 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 not provided.
K251N (p.Lys251Asn) variant details
- p.Lys251Asn
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99217
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance