R46Q (p.Arg46Gln) variant of DNMT3A (Q9Y6K1)
R46Q (p.Arg46Gln) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs1573454800
- ClinGen CA346251655
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53083
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.41
- MetaLR 0.84
- MetaSVM 0.99
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)