E205K (p.Glu205Lys) variant of UBE3A (Ubiquitin-protein ligase E3A)
E205K (p.Glu205Lys) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
E205K (p.Glu205Lys) variant details
- p.Glu205Lys
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51668
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 19.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)