D25E (p.Asp25Glu) variant of DNMT3A (Q9Y6K1)
D25E (p.Asp25Glu) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- cosmic curated COSV53083
- 1000Genomes rs538820253
- ExAC rs538820253
- TOPMed rs538820253
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.23
- MetaLR 0.34
- MetaSVM -0.70
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available