R19G (p.Arg19Gly) variant of DNMT3A (Q9Y6K1)
R19G (p.Arg19Gly) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- 1000Genomes rs959218576
- TOPMed rs959218576
- gnomAD rs959218576
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.49
- MetaLR 0.74
- MetaSVM 0.50
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available