G10E (p.Gly10Glu) variant of DNMT3A (Q9Y6K1)
G10E (p.Gly10Glu) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- gnomAD rs2034258253
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.25
- MetaLR 0.50
- MetaSVM 0.01
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available