E28* (p.Glu28Ter) variant of DNMT3A (Q9Y6K1)
E28* (p.Glu28Ter) in DNMT3A (Q9Y6K1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- cosmic curated COSV53073
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 38.00
- Population evidence available
- Structural context available