R23P (p.Arg23Pro) variant of DNMT3A (Q9Y6K1)
R23P (p.Arg23Pro) 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 0.58 / 1. The record also includes population frequency data and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- gnomAD rs1174462913
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.43
- MetaLR 0.76
- MetaSVM 0.51
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available