R19Q (p.Arg19Gln) variant of DNMT3A (Q9Y6K1)
R19Q (p.Arg19Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- TOPMed rs1290646331
- gnomAD rs1290646331
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.36
- MetaLR 0.76
- MetaSVM 0.62
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.22
- ClinVar: Uncertain significance (Intellectual disability)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available