R736L (p.Arg736Leu) variant of DNMT3A (Q9Y6K1)
R736L (p.Arg736Leu) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R736L (p.Arg736Leu) variant details
- p.Arg736Leu
- rs139293773
- cosmic curated COSV53069
- ClinVar RCV005865015
- ESP rs139293773
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)