A17G (p.Ala17Gly) variant of DNMT3A (Q9Y6K1)
A17G (p.Ala17Gly) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- TOPMed rs1299885148
- gnomAD rs1299885148
- Uncertain significance
- Missense
- MetaLR 0.52
- MetaSVM -0.50
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available