R736H (p.Arg736His) variant of DNMT3A (Q9Y6K1)
R736H (p.Arg736His) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R736H (p.Arg736His) variant details
- p.Arg736His
- rs139293773
- ClinGen CA1555700
- NCI-TCGA Cosmic COSV5303
- cosmic curated COSV53036
- Pathogenic
- not provided; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.70
- CADD 23.70
- PolyPhen-2 0.87
- SIFT 0.39
- ClinVar: Pathogenic (not provided; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)