G34D (p.Gly34Asp) variant of DNMT3A (Q9Y6K1)
G34D (p.Gly34Asp) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- TOPMed rs1317444748
- gnomAD rs1317444748
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- MetaLR 0.63
- MetaSVM 0.43
- CADD 15.70
- PolyPhen-2 0.13
- SIFT 0.11
- Most common in the Ashkenazi Jewish population (allele frequency 0.00087)
- Structural context available