R33H (p.Arg33His) variant of DNMT3A (Q9Y6K1)
R33H (p.Arg33His) 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; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- rs746009417
- ClinGen CA1556550
- NCI-TCGA Cosmic COSV5304
- cosmic curated COSV53049
- Uncertain significance
- not provided; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.30
- MetaLR 0.73
- MetaSVM 0.05
- CADD 22.00
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)