E21G (p.Glu21Gly) variant of DNMT3A (Q9Y6K1)
E21G (p.Glu21Gly) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- TOPMed rs1360086489
- gnomAD rs1360086489
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.27
- MetaLR 0.59
- MetaSVM 0.34
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 5.5e-05)
- Structural context available